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AnnotSV ID ACMG classSV ranking class (from 1 to 5) following the 2020 joint consensus recommendation of ACMG and ClinGen SV typeType of the SV (DEL, DUP...) Annotation modeType of annotation lines generated:
- annotation on the SV full length (full)
- annotation on each gene overlapped by the SV (split)
Gene nameGene symbol LocationHover your mouse to highlight SV location annotations in the gene OMIM IDHover your mouse to highlight OMIM annotations Exomiser scoreShow how close each overlapped gene is to the patient phenotype
Highly specific and consistent phenotype: score > 0.7
Consistent phenotype: score > 0.5
PhenoGenius specificityPhenotype specificity into one of A, B, C, D or . :
A - Highly specific and relatively unique to the gene
B - Consistent with the gene, highly specific, but not necessarily unique to the gene
C - Limited association with the gene, not highly specific and/or with high genetic heterogeneity
D - Not consistent with what is expected for the gene/genomic region or not consistent in general
. - No reported phenotype
Overlapped regulatory elementsReport the name of the genes potentially badly regulated Pathogenic SVKnown pathogenic genes or genomic regions (with the same SV type; from ClinVar, ClinGen, dbVar, OMIM) completely overlapped with the SV to annotate Number of pathogenic SNV/indel overlappedPathogenic SNV/indel (from ClinVar) completely overlapped with the SV to annotate Benign SVBenign genomic regions (with the same SV type; from gnomAD, ClinVar, ClinGen, DGV, DDD, 1000g, IMH) completely overlapping the SV to annotate Left breakpoint annotationsHover your mouse to highlight the left SV breakpoint (+/- 100bp) annotations Right breakpoint annotationsHover your mouse to highlight the right SV breakpoint (+/- 100bp) annotations
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (6 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 82213
Gene_count : 6
fullAnnotation_mode : full
CPNE1; RBM12; NFS1; ROMO1; RBM39; [...6genes]Gene_name : CPNE1; RBM12; NFS1; ROMO1; RBM39; LOC124904980;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 31.02
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.23842297557016
ExAC_synZ : 1.38318761602961
ExAC_misZ : 4.74208284095117
Closest_left : SPAG4
Closest_right : PHF20
.Location : .
CytoBand : q11.22
607179; 603485; OMIM_ID : 607179; 603485;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer);
20:35668052-35699352P_loss_coord : 20:35668052-35699352
P_loss_source : morbid:NFS1
P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.53; 2.06; 2.43; 0.66; 17.91
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 20:35684384-35685764 IMH; 20:35684621-35685320 IMH;
po_B_loss_someG_coord : 20:35684357-35685806 DDD:54726; 20:35684455-35685636 IMH; chr20:35702959-35703024 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35717708-35717862; 20:35717864-35718158
Repeat_type_right : AluJb; AluY
Gap_right : .
GC_content_right : 0.465
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 82213
splitAnnotation_mode : split
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ACMG : .
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206
NCBI_gene_ID : 9054
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : NM_021100
Tx_version : 5
Tx_start : 35668051
Tx_end : 35699352
Exon_count : 13
Overlapped_tx_length : 31301
Overlapped_CDS_length : 1374
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35668051
Intersect_end : 35699352
603485; OMIM_ID : 603485;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
20:35668052-35699352P_loss_coord : 20:35668052-35699352
P_loss_source : morbid:NFS1
P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 82213
splitAnnotation_mode : split
RBM12Gene_name : RBM12;
LOEUF_bin : 4
GnomAD_pLI : 2.1086e-03
ExAC_pLI : 4.7467e-01
HI : .
TS : .
DDD_HI_percent : 14.23
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.047566760715049
ExAC_misZ : 0.843417796536372
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10137
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : NM_001198838
Tx_version : 2
Tx_start : 35648924
Tx_end : 35664900
Exon_count : 3
Overlapped_tx_length : 15976
Overlapped_CDS_length : 2799
Overlapped_CDS_percent : 99
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35648924
Intersect_end : 35664900
607179; OMIM_ID : 607179;
OMIM_phenotype : (Schizophrenia 19, susceptibility to), 617629 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 82213
splitAnnotation_mode : split
CPNE1Gene_name : CPNE1;
LOEUF_bin : 6
GnomAD_pLI : 1.7292e-14
ExAC_pLI : 3.8710e-07
HI : .
TS : .
DDD_HI_percent : 31.02
ACMG : .
ExAC_cnvZ : -1.74880955339683
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.0224675137589206
ExAC_synZ : 0.497981592999118
ExAC_misZ : 0.0619532546152601
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8904
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_003915
Tx_version : 6
Tx_start : 35626043
Tx_end : 35653909
Exon_count : 16
Overlapped_tx_length : 18347
Overlapped_CDS_length : 15
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2639
Nearest_SS_type : 3'
Intersect_start : 35635562
Intersect_end : 35653909
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 82213
splitAnnotation_mode : split
ROMO1Gene_name : ROMO1;
LOEUF_bin : 7
GnomAD_pLI : 2.3400e-01
ExAC_pLI : 7.2681e-01
HI : .
TS : .
DDD_HI_percent : 11.99
ACMG : .
ExAC_cnvZ : -1.29962656319736
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.23842297557016
ExAC_synZ : 1.38318761602961
ExAC_misZ : 1.67828870198139
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140823
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : NM_080748
Tx_version : 3
Tx_start : 35699404
Tx_end : 35700980
Exon_count : 3
Overlapped_tx_length : 1576
Overlapped_CDS_length : 240
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35699404
Intersect_end : 35700980
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 82213
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
intron9-txEndLocation : intron9-txEnd
CytoBand : q11.22
Location2 : CDS-3'UTR
Tx : XM_006723891
Tx_version : 5
Tx_start : 35701346
Tx_end : 35740892
Exon_count : 17
Overlapped_tx_length : 16429
Overlapped_CDS_length : 768
Overlapped_CDS_percent : 68
Frameshift : no
Dist_nearest_SS : 970
Nearest_SS_type : 3'
Intersect_start : 35701346
Intersect_end : 35717775
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 82213
splitAnnotation_mode : split
LOC124904980Gene_name : LOC124904980;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : UTR
Tx : XR_007067771
Tx_version : 1
Tx_start : 35716470
Tx_end : 35716570
Exon_count : 1
Overlapped_tx_length : 100
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35716470
Intersect_end : 35716570
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (5 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 74907
Gene_count : 5
fullAnnotation_mode : full
RBBP8NL; LOC105372710; GATA5; LOC105372711; LOC124904947; [...5genes]Gene_name : RBBP8NL; LOC105372710; GATA5; LOC105372711; LOC124904947;
LOEUF_bin : 3
GnomAD_pLI : 2.8478e-01
ExAC_pLI : 2.5074e-01
HI : .
TS : .
DDD_HI_percent : 89.27
ExAC_cnvZ : 0.342194795158591
ExAC_delZ : 0.0278724337289648
ExAC_dupZ : 0.647941596336579
ExAC_synZ : 0.671488868879144
ExAC_misZ : 0.743319262603808
Closest_left : LOC105372709
Closest_right : LOC105376995
.Location : .
CytoBand : q13.33
611496; OMIM_ID : 611496;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
20:62463497-62475995P_loss_coord : 20:62463497-62475995
P_loss_source : morbid:GATA5
P_loss_phen : Congenital heart defects, multiple types, 5, 617912 (3) AR,AD
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639
po_P_loss_percent : 3.70; 3.01; 1.84; 1.92
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:62429901-62472599 dbVar; chr20:62432387-62439301 dbVar; chr20:62467971-62468288 dbVar; chr20:62476875-62477305 dbVar; chr20:62476942-62477066 HPRC:pbsv.DEL.5183; chr20:62476974-62477086 HPRC:pbsv.DEL.5185;
po_B_loss_someG_coord : chr20:62418754-62459551 dbVar; chr20:62429953-62456719 dbVar; chr20:62463383-62463433 dbVar; 20:62467972-62468120 CMRI:13_pbsv.DEL.1291_duplicate8; chr20:62476879-62477314 dbVar; 20:62476970-62477072 CMRI:13_pbsv.DEL.1292_duplicate6; 20:62477101-62477266 CMRI:4_pbsv.DEL.1376_duplicate6
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62421200-62421932
Repeat_type_left : (GT)n
Gap_left : .
GC_content_left : 0.575
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.485
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 74907
splitAnnotation_mode : split
GATA5Gene_name : GATA5;
LOEUF_bin : 3
GnomAD_pLI : 2.8478e-01
ExAC_pLI : 2.5074e-01
HI : .
TS : .
DDD_HI_percent : 30.83
ACMG : .
ExAC_cnvZ : 0.342194795158591
ExAC_delZ : -0.355959343507116
ExAC_dupZ : 0.647941596336579
ExAC_synZ : 0.671488868879144
ExAC_misZ : 0.743319262603808
GenCC_disease : congenital heart defects, multiple types, 5; familial atrial fibrillation; familial bicuspid aortic valve; tetralogy of fallot
GenCC_moi : AD
GenCC_classification : Limited; Supportive
GenCC_pmid : 22483626[PMID]_23175127[PMID]_23295592[PMID]; 23031282; 23289003; 23289003[PMID]; 24638895[PMID]; 27066509; 28372585
NCBI_gene_ID : 140628
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : 5'UTR-3'UTR
Tx : NM_080473
Tx_version : 5
Tx_start : 62463496
Tx_end : 62475995
Exon_count : 7
Overlapped_tx_length : 12499
Overlapped_CDS_length : 1194
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62463496
Intersect_end : 62475995
611496; OMIM_ID : 611496;
OMIM_phenotype : Congenital heart defects, multiple types, 5, 617912 (3) AR,AD;
OMIM_inheritance : AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
20:62463497-62475995P_loss_coord : 20:62463497-62475995
P_loss_source : morbid:GATA5
P_loss_phen : Congenital heart defects, multiple types, 5, 617912 (3) AR,AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 74907
splitAnnotation_mode : split
RBBP8NLGene_name : RBBP8NL;
LOEUF_bin : 3
GnomAD_pLI : 9.8478e-03
ExAC_pLI : 7.4885e-03
HI : .
TS : .
DDD_HI_percent : 89.27
ACMG : .
ExAC_cnvZ : 0.203725053083875
ExAC_delZ : 0.0278724337289648
ExAC_dupZ : 0.237552928774473
ExAC_synZ : -0.760062235436627
ExAC_misZ : -0.914741460581054
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140893
txStart-intron1Location : txStart-intron1
CytoBand : q13.33
Location2 : 5'UTR
Tx : NM_080833
Tx_version : 3
Tx_start : 62410236
Tx_end : 62427539
Exon_count : 14
Overlapped_tx_length : 5617
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2192
Nearest_SS_type : 3'
Intersect_start : 62421922
Intersect_end : 62427539
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:62418754-62459551
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 74907
splitAnnotation_mode : split
LOC105372711Gene_name : LOC105372711;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : XR_001754702
Tx_version : 2
Tx_start : 62480451
Tx_end : 62491198
Exon_count : 3
Overlapped_tx_length : 10747
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62480451
Intersect_end : 62491198
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 74907
splitAnnotation_mode : split
LOC124904947Gene_name : LOC124904947;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : XR_007067707
Tx_version : 1
Tx_start : 62494824
Tx_end : 62496014
Exon_count : 2
Overlapped_tx_length : 1190
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62494824
Intersect_end : 62496014
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 74907
splitAnnotation_mode : split
LOC105372710Gene_name : LOC105372710;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_187662
Tx_version : 1
Tx_start : 62427829
Tx_end : 62431509
Exon_count : 4
Overlapped_tx_length : 3680
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62427829
Intersect_end : 62431509
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:62418754-62459551
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 79055
Gene_count : 2
fullAnnotation_mode : full
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
Closest_left : ITPA
Closest_right : LOC124904983
.Location : .
CytoBand : p13
610206; OMIM_ID : 610206;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid[...]RE_gene : VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
20:3234559-3239200P_loss_coord : 20:3234559-3239200
P_loss_source : dbVar:nssv17172689
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11; dbVar:nssv17172690
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189; 20:3233505-3239200
po_P_loss_percent : 1.38; 3.11; 9.40; 0.56; 0.91; 43.08; 53.29; 89.19
15P_snvindel_nb : 15
P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355
po_B_loss_someG_coord : 20:3234326-3234536 DDD:54166; chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.670
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.435
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 79055
splitAnnotation_mode : split
SLC4A11Gene_name : SLC4A11;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ACMG : .
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991
NCBI_gene_ID : 83959
txStart-exon5Location : txStart-exon5
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_017028093
Tx_version : 2
Tx_start : 3227416
Tx_end : 3238189
Exon_count : 20
Overlapped_tx_length : 4069
Overlapped_CDS_length : 614
Overlapped_CDS_percent : 23
Frameshift : yes
Dist_nearest_SS : 38
Nearest_SS_type : 5'
Intersect_start : 3234120
Intersect_end : 3238189
610206; OMIM_ID : 610206;
OMIM_phenotype : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3);
Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR;
Corneal endothelial dystrophy, AR, 217700 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
15P_snvindel_nb : 15
P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 79055
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron20-txEndLocation : intron20-txEnd
CytoBand : p13
Location2 : CDS-3'UTR
Tx : NM_001009984
Tx_version : 3
Tx_start : 3249305
Tx_end : 3407669
Exon_count : 37
Overlapped_tx_length : 63870
Overlapped_CDS_length : 1856
Overlapped_CDS_percent : 52
Frameshift : yes
Dist_nearest_SS : 1857
Nearest_SS_type : 5'
Intersect_start : 3249305
Intersect_end : 3313175
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 36903
Gene_count : 2
fullAnnotation_mode : full
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
Closest_left : ITPA
Closest_right : LOC124904983
.Location : .
CytoBand : p13
610206; OMIM_ID : 610206;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer);
20:3234559-3239200P_loss_coord : 20:3234559-3239200
P_loss_source : dbVar:nssv17172689
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11; dbVar:nssv17172690
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189; 20:3233505-3239200
po_P_loss_percent : 0.64; 1.45; 4.39; 0.26; 0.43; 43.08; 53.29; 89.19
15P_snvindel_nb : 15
P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar
po_B_loss_someG_coord : 20:3234326-3234536 DDD:54166; chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.670
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3270811-3271112
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.510
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 36903
splitAnnotation_mode : split
SLC4A11Gene_name : SLC4A11;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ACMG : .
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991
NCBI_gene_ID : 83959
txStart-exon5Location : txStart-exon5
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_017028093
Tx_version : 2
Tx_start : 3227416
Tx_end : 3238189
Exon_count : 20
Overlapped_tx_length : 4069
Overlapped_CDS_length : 614
Overlapped_CDS_percent : 23
Frameshift : yes
Dist_nearest_SS : 38
Nearest_SS_type : 5'
Intersect_start : 3234120
Intersect_end : 3238189
610206; OMIM_ID : 610206;
OMIM_phenotype : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3);
Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR;
Corneal endothelial dystrophy, AR, 217700 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
15P_snvindel_nb : 15
P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 36903
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-txEndLocation : intron10-txEnd
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 21718
Overlapped_CDS_length : 884
Overlapped_CDS_percent : 49
Frameshift : yes
Dist_nearest_SS : 461
Nearest_SS_type : 3'
Intersect_start : 3249305
Intersect_end : 3271023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 79979
Gene_count : 2
fullAnnotation_mode : full
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
Closest_left : ITPA
Closest_right : LOC124904983
.Location : .
CytoBand : p13
610206; OMIM_ID : 610206;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE[...]RE_gene : NOP56 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer);
20:3233505-3239200; 20:3234559-3239200P_loss_coord : 20:3233505-3239200; 20:3234559-3239200
P_loss_source : dbVar:nssv17172689; dbVar:nssv17172690
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189
po_P_loss_percent : 1.40; 3.15; 9.51; 0.57; 0.92; 50.91; 65.40
30P_snvindel_nb : 30
P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355
po_B_loss_someG_coord : 20:3234326-3234536 DDD:54166; chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.435
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 79979
splitAnnotation_mode : split
SLC4A11Gene_name : SLC4A11;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ACMG : .
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991
NCBI_gene_ID : 83959
txStart-intron7Location : txStart-intron7
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_017028093
Tx_version : 2
Tx_start : 3227416
Tx_end : 3238189
Exon_count : 20
Overlapped_tx_length : 4993
Overlapped_CDS_length : 858
Overlapped_CDS_percent : 32
Frameshift : no
Dist_nearest_SS : 317
Nearest_SS_type : 5'
Intersect_start : 3233196
Intersect_end : 3238189
610206; OMIM_ID : 610206;
OMIM_phenotype : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3);
Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR;
Corneal endothelial dystrophy, AR, 217700 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
30P_snvindel_nb : 30
P_snvindel_phen : Congenital_hereditary_endothelial_dystrophy_of_cornea; Corneal_dystrophy,_Fuchs_endothelial,_4; Corneal_dystrophy-perceptive_deafness_syndrome
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 79979
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron20-txEndLocation : intron20-txEnd
CytoBand : p13
Location2 : CDS-3'UTR
Tx : NM_001009984
Tx_version : 3
Tx_start : 3249305
Tx_end : 3407669
Exon_count : 37
Overlapped_tx_length : 63870
Overlapped_CDS_length : 1856
Overlapped_CDS_percent : 52
Frameshift : yes
Dist_nearest_SS : 1857
Nearest_SS_type : 5'
Intersect_start : 3249305
Intersect_end : 3313175
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28525
Gene_count : 1
fullAnnotation_mode : full
JPH2Gene_name : JPH2;
LOEUF_bin : 4
GnomAD_pLI : 4.5187e-05
ExAC_pLI : 1.4504e-02
HI : .
TS : .
DDD_HI_percent : 52.4
ExAC_cnvZ : -0.313290653611826
ExAC_delZ : -1.46882857123298
ExAC_dupZ : 0.669080902512314
ExAC_synZ : 3.05967055109539
ExAC_misZ : 3.93024751544471
Closest_left : LOC124904909
Closest_right : OSER1
.Location : .
CytoBand : q13.12
605267; OMIM_ID : 605267;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ADA (morbid/RE=EA_enhancer); HNF4A (morbid/RE[...]RE_gene : ADA (morbid/RE=EA_enhancer); HNF4A (morbid/RE=EA_enhancer);
20:44176817-44187188P_loss_coord : 20:44176817-44187188
P_loss_source : morbid:JPH2
P_loss_phen : Cardiomyopathy, dilated, 2E, 619492 (3) AR; Cardiomyopathy, hypertrophic, 17, 613873 (3) AD
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv16254073
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44149494-44450551
po_P_loss_percent : 0.18; 0.23; 0.24; 1.18; 9.47
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:44162763-44162791 HPRC:pbsv.DEL.3352
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:44162360-44162745
Repeat_type_left : MLT2A2
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.455
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 28525
splitAnnotation_mode : split
JPH2Gene_name : JPH2;
LOEUF_bin : 4
GnomAD_pLI : 4.5187e-05
ExAC_pLI : 1.4504e-02
HI : .
TS : .
DDD_HI_percent : 52.4
ACMG : .
ExAC_cnvZ : -0.313290653611826
ExAC_delZ : -1.46882857123298
ExAC_dupZ : 0.669080902512314
ExAC_synZ : 3.05967055109539
ExAC_misZ : 3.93024751544471
GenCC_disease : cardiomyopathy, dilated, 2E; dilated cardiomyopathy; hypertrophic cardiomyopathy; hypertrophic cardiomyopathy 17
GenCC_moi : AD; sD
GenCC_classification : Limited; Moderate; Strong
GenCC_pmid : 17509612; 22389502; 23973696; 24001019; 26573135; 26869393; 27471098; 28393127; 28798025; 29121657; 29540472; 30235249; 30384889; 30681346; 30847666; 31227780; 31918855; 32368696; 32870709; 32879264; 32880476; 33500567; 33673806; 34036930
NCBI_gene_ID : 57158
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_006723833
Tx_version : 5
Tx_start : 44170756
Tx_end : 44187188
Exon_count : 2
Overlapped_tx_length : 16432
Overlapped_CDS_length : 444
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44170756
Intersect_end : 44187188
605267; OMIM_ID : 605267;
OMIM_phenotype : Cardiomyopathy, dilated, 2E, 619492 (3) AR;
Cardiomyopathy, hypertrophic, 17, 613873 (3) AD;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
20:44176817-44187188P_loss_coord : 20:44176817-44187188
P_loss_source : morbid:JPH2
P_loss_phen : Cardiomyopathy, dilated, 2E, 619492 (3) AR; Cardiomyopathy, hypertrophic, 17, 613873 (3) AD
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 27480
Gene_count : 1
fullAnnotation_mode : full
ITCHGene_name : ITCH;
LOEUF_bin : 0
GnomAD_pLI : 9.9997e-01
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 7.04
ExAC_cnvZ : -0.993700958436598
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.49058274027449
ExAC_synZ : -1.56486117105794
ExAC_misZ : 3.00006147306749
Closest_left : AHCY
Closest_right : MIR644A
.Location : .
CytoBand : q11.22
606409; OMIM_ID : 606409;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
20:34457371-34457494P_loss_coord : 20:34457371-34457494
P_loss_source : dbVar:nssv16212361
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:ITCH; dbVar:nssv18787805
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34430188-34511773; 20:34457086-34462130
po_P_loss_percent : 0.18; 0.89; 0.81; 33.68; 12.65
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:34442920-34443326 dbVar
po_B_loss_someG_coord : chr20:34434642-34434748 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34430081-34430311
Repeat_type_left : MIR
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:34457677-34457979
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.450
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 27480
splitAnnotation_mode : split
ITCHGene_name : ITCH;
LOEUF_bin : 0
GnomAD_pLI : 9.9997e-01
ExAC_pLI : 9.9999e-01
HI : 30
TS : .
DDD_HI_percent : 7.04
ACMG : .
ExAC_cnvZ : -0.993700958436598
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.49058274027449
ExAC_synZ : -1.56486117105794
ExAC_misZ : 3.00006147306749
GenCC_disease : syndromic multisystem autoimmune disease due to ITCH deficiency
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 17095521; 20170897; 20170897[PMID]
NCBI_gene_ID : 83737
exon1-intron7Location : exon1-intron7
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : XM_047440536
Tx_version : 1
Tx_start : 34430187
Tx_end : 34511773
Exon_count : 19
Overlapped_tx_length : 27480
Overlapped_CDS_length : 785
Overlapped_CDS_percent : 37
Frameshift : yes
Dist_nearest_SS : 94
Nearest_SS_type : 5'
Intersect_start : 34430243
Intersect_end : 34457723
606409; OMIM_ID : 606409;
OMIM_phenotype : Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
20:34457371-34457494P_loss_coord : 20:34457371-34457494
P_loss_source : dbVar:nssv16212361
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 69645
Gene_count : 1
fullAnnotation_mode : full
ITCHGene_name : ITCH;
LOEUF_bin : 0
GnomAD_pLI : 9.9997e-01
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 7.04
ExAC_cnvZ : -0.993700958436598
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.49058274027449
ExAC_synZ : -1.56486117105794
ExAC_misZ : 3.00006147306749
Closest_left : AHCY
Closest_right : MIR644A
.Location : .
CytoBand : q11.22
606409; OMIM_ID : 606409;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer);
20:34457371-34457494P_loss_coord : 20:34457371-34457494
P_loss_source : dbVar:nssv16212361
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:ITCH; dbVar:nssv18787805
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34430188-34511773; 20:34457086-34462130
po_P_loss_percent : 0.45; 2.25; 2.05; 35.69; 44.02
2P_snvindel_nb : 2
P_snvindel_phen : Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:34415351-34416207 dbVar; chr20:34424649-34429161 dbVar; chr20:34442920-34443326 dbVar
po_B_loss_someG_coord : chr20:34400045-34400798 dbVar; chr20:34415376-34416176 dbVar; chr20:34434642-34434748 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34389566-34389871
Repeat_type_left : LTR47A2
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:34459015-34459609
Repeat_type_right : MER77B
Gap_right : .
GC_content_right : 0.475
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 69645
splitAnnotation_mode : split
ITCHGene_name : ITCH;
LOEUF_bin : 0
GnomAD_pLI : 9.9997e-01
ExAC_pLI : 9.9999e-01
HI : 30
TS : .
DDD_HI_percent : 7.04
ACMG : .
ExAC_cnvZ : -0.993700958436598
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.49058274027449
ExAC_synZ : -1.56486117105794
ExAC_misZ : 3.00006147306749
GenCC_disease : syndromic multisystem autoimmune disease due to ITCH deficiency
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 17095521; 20170897; 20170897[PMID]
NCBI_gene_ID : 83737
intron2-intron14Location : intron2-intron14
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : XM_047440538
Tx_version : 1
Tx_start : 34363272
Tx_end : 34479722
Exon_count : 19
Overlapped_tx_length : 69645
Overlapped_CDS_length : 1418
Overlapped_CDS_percent : 79
Frameshift : yes
Dist_nearest_SS : 1832
Nearest_SS_type : 5'
Intersect_start : 34389661
Intersect_end : 34459306
606409; OMIM_ID : 606409;
OMIM_phenotype : Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
20:34457371-34457494P_loss_coord : 20:34457371-34457494
P_loss_source : dbVar:nssv16212361
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Syndromic_multisystem_autoimmune_disease_due_to_ITCH_deficiency
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_loss_source, +1.00): Complete overlap of a known pathogenic Loss SV.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 17308
Gene_count : 1
fullAnnotation_mode : full
PLCB1Gene_name : PLCB1;
LOEUF_bin : 1
GnomAD_pLI : 9.8337e-01
ExAC_pLI : 9.7904e-01
HI : .
TS : .
DDD_HI_percent : 5.05
ExAC_cnvZ : 0.410034214879466
ExAC_delZ : 0.652786134947331
ExAC_dupZ : 0.1913284319561
ExAC_synZ : -0.625866716629295
ExAC_misZ : 4.06694209941022
Closest_left : LOC105372521
Closest_right : RNU105B
.Location : .
CytoBand : p12.3
607120; OMIM_ID : 607120;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
20:8716245-8717868P_loss_coord : 20:8716245-8717868
P_loss_source : dbVar:nssv18786686
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Developmental and epileptic encephalopathy 12, 613722 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; morbid:PLCB1; dbVar:nssv15771903; dbVar:nssv16208567; dbVar:nssv17970840
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8132266-8884900; 20:8532320-8811705; 20:8591050-22108012; 20:8658519-8717868
po_P_loss_percent : 0.12; 0.20; 0.21; 0.26; 0.50; 2.30; 6.20; 0.13; 21.60
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:8710327-8710437 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:8704737-8705187
Repeat_type_left : MLT2B1
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
full=5ACMG_class : full=5
DELSV_type : DEL
SV_length : 17308
splitAnnotation_mode : split
PLCB1Gene_name : PLCB1;
LOEUF_bin : 1
GnomAD_pLI : 9.8337e-01
ExAC_pLI : 9.7904e-01
HI : 30
TS : 0
DDD_HI_percent : 5.05
ACMG : .
ExAC_cnvZ : 0.410034214879466
ExAC_delZ : 0.652786134947331
ExAC_dupZ : 0.1913284319561
ExAC_synZ : -0.625866716629295
ExAC_misZ : 4.06694209941022
GenCC_disease : West syndrome; developmental and epileptic encephalopathy; developmental and epileptic encephalopathy, 12; malignant migrating partial seizures of infancy
GenCC_moi : AD; AR
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 20833646; 20833646[PMID]_22196487[PMID]; 22690784; 22690784[PMID]; 24684524
NCBI_gene_ID : 23236
intron11-exon15Location : intron11-exon15
CytoBand : p12.3
Location2 : CDS
Tx : NM_015192
Tx_version : 4
Tx_start : 8132265
Tx_end : 8884900
Exon_count : 32
Overlapped_tx_length : 17308
Overlapped_CDS_length : 352
Overlapped_CDS_percent : 9
Frameshift : yes
Dist_nearest_SS : 6
Nearest_SS_type : 3'
Intersect_start : 8705051
Intersect_end : 8722359
607120; OMIM_ID : 607120;
OMIM_phenotype : Developmental and epileptic encephalopathy 12, 613722 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
20:8716245-8717868P_loss_coord : 20:8716245-8717868
P_loss_source : dbVar:nssv18786686
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
5ACMG_class : 5
AnnotSV_ranking_score : 1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2A (cf P_gain_source, +1.00): Complete overlap; the known pathogenic gain SV is fully contained within the observed copy-number gain.
2I-3 (ZNF341, +0.00): NA
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 29498
Gene_count : 1
fullAnnotation_mode : full
ZNF341Gene_name : ZNF341;
LOEUF_bin : 3
GnomAD_pLI : 2.4063e-06
ExAC_pLI : 1.2419e-01
HI : .
TS : .
DDD_HI_percent : 48.05
ExAC_cnvZ : -1.80503660369897
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.520281061391948
ExAC_synZ : -0.656830897300228
ExAC_misZ : 0.699352069531651
Closest_left : LOC124904890
Closest_right : ZNF341-AS1
.Location : .
CytoBand : q11.22
618269; OMIM_ID : 618269;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
20:33745084-33749092P_gain_coord : 20:33745084-33749092
P_gain_source : dbVar:nssv18787892
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.05; 0.05; 0.05; 0.05; 0.05; 0.10; 0.18; 0.30; 0.20; 0.45; 0.59; 0.57; 0.77
6P_snvindel_nb : 6
P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:33759475-33761539 dbVar
po_B_gain_someG_coord : 20:33747323-33747643 1000g
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33734709-33735005
Repeat_type_left : AluSz
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33764021-33764326; 20:33764396-33764476
Repeat_type_right : AluY; MER33
Gap_right : .
GC_content_right : 0.310
full=5ACMG_class : full=5
DUPSV_type : DUP
SV_length : 29498
splitAnnotation_mode : split
ZNF341Gene_name : ZNF341;
LOEUF_bin : 3
GnomAD_pLI : 2.4063e-06
ExAC_pLI : 1.2419e-01
HI : .
TS : .
DDD_HI_percent : 48.05
ACMG : .
ExAC_cnvZ : -1.80503660369897
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.520281061391948
ExAC_synZ : -0.656830897300228
ExAC_misZ : 0.699352069531651
GenCC_disease : hyper-IgE recurrent infection syndrome 3, autosomal recessive
GenCC_moi : AR
GenCC_classification : Strong
GenCC_pmid : 29907690; 29907691
NCBI_gene_ID : 84905
intron1-intron8Location : intron1-intron8
CytoBand : q11.22
Location2 : CDS
Tx : NM_001282933
Tx_version : 2
Tx_start : 33731995
Tx_end : 33792269
Exon_count : 15
Overlapped_tx_length : 29498
Overlapped_CDS_length : 1191
Overlapped_CDS_percent : 46
Frameshift : no
Dist_nearest_SS : 2319
Nearest_SS_type : 5'
Intersect_start : 33734876
Intersect_end : 33764374
618269; OMIM_ID : 618269;
OMIM_phenotype : Hyper-IgE syndrome 3, AR, with recurrent infections, 618282 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
20:33745084-33749092P_gain_coord : 20:33745084-33749092
P_gain_source : dbVar:nssv18787892
P_gain_phen : .
P_gain_hpo : .
6P_snvindel_nb : 6
P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2D-4 (TOP1, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (6 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 230146
Gene_count : 6
fullAnnotation_mode : full
TOP1; PLCG1-AS1; LOC124904903; PLCG1; MIR6871; [...6genes]Gene_name : TOP1; PLCG1-AS1; LOC124904903; PLCG1; MIR6871; ZHX3;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 55.23
ExAC_cnvZ : -0.75228729997678
ExAC_delZ : -2.41588703402856
ExAC_dupZ : 0.797924307808397
ExAC_synZ : 0.621284009453946
ExAC_misZ : 4.70150687382943
Closest_left : LOC105372621
Closest_right : LPIN3
.Location : .
CytoBand : q12
126420; 172420; OMIM_ID : 126420; 172420;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
AR (HI=3/morbid/RE=mTL_miRNA); DGAT1 (morbid/[...]RE_gene : AR (HI=3/morbid/RE=mTL_miRNA); DGAT1 (morbid/RE=mTL_miRNA); MAFB (morbid/RE=EA_enhancer); CALM3 (morbid/RE=mTL_miRNA); GLDN (morbid/RE=mTL_miRNA); CASP8 (morbid/RE=mTL_miRNA); NANOS1 (morbid/RE=mTL_miRNA); MYH9 (morbid/RE=mTL_miRNA); C8A (morbid/RE=mTL_miRNA); CNBP (morbid/RE=mTL_miRNA); GAN (morbid/RE=mTL_miRNA); KANSL1 (HI=3/morbid/RE=mTL_miRNA); COL4A1 (morbid/RE=mTL_miRNA); STAT3 (morbid/RE=mTL_miRNA); ENTPD1 (morbid/RE=mTL_miRNA); GCDH (morbid/RE=mTL_miRNA); TNFRSF13C (morbid/RE=mTL_miRNA); TPI1 (morbid/RE=mTL_miRNA); P3H1 (morbid/RE=mTL_miRNA); PABPN1 (morbid/RE=mTL_miRNA); BCL10 (morbid/RE=mTL_miRNA); COX6A1 (morbid/RE=mTL_miRNA); UBTF (morbid/RE=mTL_miRNA); PLAG1 (morbid/RE=mTL_miRNA); ALDOA (morbid/RE=mTL_miRNA); CSGALNACT1 (morbid/RE=mTL_miRNA); SETD5 (HI=3/morbid/RE=mTL_miRNA); SLC30A10 (morbid/RE=mTL_miRNA); CCDC115 (morbid/RE=mTL_miRNA); PIP5K1C (morbid/RE=mTL_miRNA); TRMU (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); PLEKHG2 (morbid/RE=mTL_miRNA); ADAR (morbid/RE=mTL_miRNA); BUB1 (morbid/RE=mTL_miRNA); CTC1 (morbid/RE=mTL_miRNA); PEX26 (morbid/RE=mTL_miRNA); DPH2 (morbid/RE=mTL_miRNA); IDS (HI=3/morbid/RE=mTL_miRNA); BACH1 (morbid/RE=mTL_miRNA); GIPC1 (morbid/RE=mTL_miRNA); KMT2A (HI=3/morbid/RE=mTL_miRNA); CYB561 (morbid/RE=mTL_miRNA); ATF6 (morbid/RE=mTL_miRNA); KCNB1 (morbid/RE=mTL_miRNA); EIF4A3 (morbid/RE=mTL_miRNA); NCKAP1 (HI=3/RE=mTL_miRNA);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : DNA topoisomerase I, camptothecin-resistant (3)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:TOP1
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:41028822-41124487
po_P_loss_percent : 1.49; 1.86; 1.95; 50.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:41097670-41103447 dbVar; chr20:41115509-41115588 dbVar; chr20:41148367-41149390 dbVar; chr20:41165675-41190093 dbVar; chr20:41185096-41189714 dbVar; chr20:41197210-41197248 HPRC:pbsv.DEL.3161; chr20:41226135-41240061 dbVar; chr20:41253857-41258070 dbVar; chr20:41257715-41258003 HPRC:pbsv.DEL.3163; 20:41257716-41258003 esv2673884; chr20:41277500-41278845 gnomAD-SV_v3_DEL_chr20_ae0ff7d8; chr20:41277590-41278770 dbVar; chr20:41277677-41278858 HPRC:pbsv.DEL.3164; 20:41277706-41278888 1000g; 20:41277708-41278887 DDD:54800; chr20:41296232-41296253 HPRC:pbsv.DEL.3166
po_B_loss_someG_coord : chr20:41090330-41090396 dbVar; chr20:41099671-41099843 dbVar; chr20:41132666-41132785 dbVar; 20:41159951-41159994 DDD:54795; chr20:41184283-41184388 dbVar; chr20:41196370-41196563 dbVar; chr20:41218145-41218247 dbVar; chr20:41253847-41258073 dbVar; 20:41257715-41258003 CMRI:11_pbsv.DEL.1024_duplicate9; chr20:41257715-41258003 dbVar; 20:41277356-41279252 dgv786e199; 20:41277548-41279015 IMH; 20:41277677-41278858 CMRI:1_pbsv.DEL.513_duplicate7; chr20:41277705-41278888 dbVar; 20:41277706-41278888 esv3645835; chr20:41295832-41302060 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 230146
splitAnnotation_mode : split
PLCG1Gene_name : PLCG1;
LOEUF_bin : 1
GnomAD_pLI : 7.9288e-05
ExAC_pLI : 7.6335e-01
HI : .
TS : .
DDD_HI_percent : 4.71
ACMG : .
ExAC_cnvZ : -0.75228729997678
ExAC_delZ : -2.55255615733146
ExAC_dupZ : 0.797924307808397
ExAC_synZ : 0.403846604738862
ExAC_misZ : 4.60671010397037
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5335
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_005260438
Tx_version : 3
Tx_start : 41137542
Tx_end : 41177626
Exon_count : 31
Overlapped_tx_length : 40084
Overlapped_CDS_length : 3993
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41137542
Intersect_end : 41177626
172420; OMIM_ID : 172420;
OMIM_phenotype : ?Immune dysregulation, autoimmunity, and autoinflammation, 620514 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 230146
splitAnnotation_mode : split
ZHX3Gene_name : ZHX3;
LOEUF_bin : 2
GnomAD_pLI : 5.0815e-02
ExAC_pLI : 3.5442e-01
HI : .
TS : .
DDD_HI_percent : 55.23
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.621284009453946
ExAC_misZ : 0.818886261199518
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23051
intron1-txEndLocation : intron1-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : NM_001384325
Tx_version : 1
Tx_start : 41178454
Tx_end : 41317731
Exon_count : 5
Overlapped_tx_length : 128300
Overlapped_CDS_length : 2910
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : 10754
Nearest_SS_type : 5'
Intersect_start : 41178454
Intersect_end : 41306754
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 230146
splitAnnotation_mode : split
TOP1Gene_name : TOP1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 1.64
ACMG : .
ExAC_cnvZ : -1.41151623617141
ExAC_delZ : -2.41588703402856
ExAC_dupZ : -0.836816505234408
ExAC_synZ : 0.425865658646613
ExAC_misZ : 4.70150687382943
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7150
intron4-txEndLocation : intron4-txEnd
CytoBand : q12
Location2 : CDS-3'UTR
Tx : NM_003286
Tx_version : 4
Tx_start : 41028821
Tx_end : 41124487
Exon_count : 21
Overlapped_tx_length : 47879
Overlapped_CDS_length : 2019
Overlapped_CDS_percent : 87
Frameshift : no
Dist_nearest_SS : 314
Nearest_SS_type : 5'
Intersect_start : 41076608
Intersect_end : 41124487
126420; OMIM_ID : 126420;
OMIM_phenotype : DNA topoisomerase I, camptothecin-resistant (3);
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 230146
splitAnnotation_mode : split
MIR6871Gene_name : MIR6871;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 102466912
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_106931
Tx_version : 1
Tx_start : 41169022
Tx_end : 41169078
Exon_count : 1
Overlapped_tx_length : 56
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41169022
Intersect_end : 41169078
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:41165675-41190093
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 230146
splitAnnotation_mode : split
LOC124904903Gene_name : LOC124904903;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : 5'UTR-3'UTR
Tx : XM_047440629
Tx_version : 1
Tx_start : 41133842
Tx_end : 41137513
Exon_count : 2
Overlapped_tx_length : 3671
Overlapped_CDS_length : 582
Overlapped_CDS_percent : 76
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41133842
Intersect_end : 41137513
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 230146
splitAnnotation_mode : split
PLCG1-AS1Gene_name : PLCG1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927117
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_109889
Tx_version : 1
Tx_start : 41097993
Tx_end : 41138000
Exon_count : 7
Overlapped_tx_length : 40007
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 41097993
Intersect_end : 41138000
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (NFS1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (4 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 24200
Gene_count : 4
fullAnnotation_mode : full
NFS1; ROMO1; RBM39; LOC124904980; [...4genes]Gene_name : NFS1; ROMO1; RBM39; LOC124904980;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 16.38
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.23842297557016
ExAC_synZ : 1.38318761602961
ExAC_misZ : 4.74208284095117
Closest_left : RBM12
Closest_right : PHF20
.Location : .
CytoBand : q11.22
603485; OMIM_ID : 603485;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352
po_P_loss_percent : 0.16; 0.18; 0.71; 0.20; 5.27; 18.46
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:35702959-35703024 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35693547-35693681
Repeat_type_left : AluJo
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35717708-35717862; 20:35717864-35718158
Repeat_type_right : AluJb; AluY
Gap_right : .
GC_content_right : 0.465
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 24200
splitAnnotation_mode : split
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ACMG : .
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206
NCBI_gene_ID : 9054
txStart-intron4Location : txStart-intron4
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001198989
Tx_version : 2
Tx_start : 35668051
Tx_end : 35699352
Exon_count : 12
Overlapped_tx_length : 5777
Overlapped_CDS_length : 408
Overlapped_CDS_percent : 33
Frameshift : no
Dist_nearest_SS : 2801
Nearest_SS_type : 5'
Intersect_start : 35693575
Intersect_end : 35699352
603485; OMIM_ID : 603485;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 24200
splitAnnotation_mode : split
ROMO1Gene_name : ROMO1;
LOEUF_bin : 7
GnomAD_pLI : 2.3400e-01
ExAC_pLI : 7.2681e-01
HI : .
TS : .
DDD_HI_percent : 11.99
ACMG : .
ExAC_cnvZ : -1.29962656319736
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.23842297557016
ExAC_synZ : 1.38318761602961
ExAC_misZ : 1.67828870198139
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140823
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : NM_080748
Tx_version : 3
Tx_start : 35699404
Tx_end : 35700980
Exon_count : 3
Overlapped_tx_length : 1576
Overlapped_CDS_length : 240
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35699404
Intersect_end : 35700980
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 24200
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
intron9-txEndLocation : intron9-txEnd
CytoBand : q11.22
Location2 : CDS-3'UTR
Tx : XM_006723891
Tx_version : 5
Tx_start : 35701346
Tx_end : 35740892
Exon_count : 17
Overlapped_tx_length : 16429
Overlapped_CDS_length : 768
Overlapped_CDS_percent : 68
Frameshift : no
Dist_nearest_SS : 970
Nearest_SS_type : 3'
Intersect_start : 35701346
Intersect_end : 35717775
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 24200
splitAnnotation_mode : split
LOC124904980Gene_name : LOC124904980;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : UTR
Tx : XR_007067771
Tx_version : 1
Tx_start : 35716470
Tx_end : 35716570
Exon_count : 1
Overlapped_tx_length : 100
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35716470
Intersect_end : 35716570
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (CRLS1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (4 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 70138
Gene_count : 4
fullAnnotation_mode : full
TRMT6; MCM8; MCM8-AS1; CRLS1; [...4genes]Gene_name : TRMT6; MCM8; MCM8-AS1; CRLS1;
LOEUF_bin : 4
GnomAD_pLI : 3.1076e-03
ExAC_pLI : 3.3508e-02
HI : .
TS : .
DDD_HI_percent : 35.79
ExAC_cnvZ : 1.01754506009196
ExAC_delZ : 0.650584181385956
ExAC_dupZ : 0.973808958628458
ExAC_synZ : 0.488280520880372
ExAC_misZ : 0.968408915204078
Closest_left : CHGB
Closest_right : LRRN4
.Location : .
CytoBand : p12.3
608187; 608188; OMIM_ID : 608187; 608188;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857; morbid:CRLS1
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370; 20:6007249-6040053
po_P_loss_percent : 1.23; 0.50; 0.81; 2.73; 0.85; 60.97; 32.68
4P_snvindel_nb : 4
P_snvindel_phen : Premature_ovarian_failure_10
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:5962322-5962503 dbVar; chr20:5962341-5962670 HPRC:pbsv.DEL.591; 20:5962342-5962670 1000g; chr20:5962354-5962670 dbVar; chr20:5968621-5971012 dbVar; chr20:6010093-6010812 dbVar
po_B_loss_someG_coord : chr20:5962254-5962352 gnomAD-SV_v3_DEL_chr20_9f6fc67f; 20:5962341-5962670 CMRI:3_pbsv.DEL.150_duplicate6; chr20:5962341-5962670 dbVar; chr20:5962342-5962670 dbVar; chr20:5962354-5962670 gnomAD-SV_v3_DEL_chr20_7e191f80; chr20:6008123-6008149 HPRC:pbsv.DEL.593
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5947774-5947980
Repeat_type_left : AluJb
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:6017516-6017935; 20:6017936-6018237
Repeat_type_right : L1MEg; AluSz6
Gap_right : .
GC_content_right : 0.440
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 70138
splitAnnotation_mode : split
CRLS1Gene_name : CRLS1;
LOEUF_bin : 5
GnomAD_pLI : 3.1076e-03
ExAC_pLI : 3.3508e-02
HI : .
TS : .
DDD_HI_percent : 35.79
ACMG : .
ExAC_cnvZ : 0.766326073232298
ExAC_delZ : 0.634248000685519
ExAC_dupZ : 0.544642995721259
ExAC_synZ : 0.488280520880372
ExAC_misZ : -0.0103810121795492
GenCC_disease : combined oxidative phosphorylation deficiency 57
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 35147173
NCBI_gene_ID : 54675
txStart-intron3Location : txStart-intron3
CytoBand : p12.3
Location2 : 5'UTR-CDS
Tx : XM_011529263
Tx_version : 3
Tx_start : 6006122
Tx_end : 6031370
Exon_count : 5
Overlapped_tx_length : 11846
Overlapped_CDS_length : 574
Overlapped_CDS_percent : 98
Frameshift : yes
Dist_nearest_SS : 2478
Nearest_SS_type : 5'
Intersect_start : 6006122
Intersect_end : 6017968
608188; OMIM_ID : 608188;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 70138
splitAnnotation_mode : split
TRMT6Gene_name : TRMT6;
LOEUF_bin : 4
GnomAD_pLI : 2.4031e-05
ExAC_pLI : 4.9253e-04
HI : .
TS : .
DDD_HI_percent : 32.62
ACMG : .
ExAC_cnvZ : 1.01754506009196
ExAC_delZ : 0.650584181385956
ExAC_dupZ : 0.973808958628458
ExAC_synZ : -0.868768220033901
ExAC_misZ : 0.968408915204078
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51605
txStart-intron1Location : txStart-intron1
CytoBand : p12.3
Location2 : 5'UTR-CDS
Tx : NM_015939
Tx_version : 5
Tx_start : 5937227
Tx_end : 5950533
Exon_count : 11
Overlapped_tx_length : 2703
Overlapped_CDS_length : 128
Overlapped_CDS_percent : 8
Frameshift : yes
Dist_nearest_SS : 1297
Nearest_SS_type : 3'
Intersect_start : 5947830
Intersect_end : 5950533
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 70138
splitAnnotation_mode : split
MCM8Gene_name : MCM8;
LOEUF_bin : 5
GnomAD_pLI : 1.0536e-16
ExAC_pLI : 1.9289e-10
HI : .
TS : .
DDD_HI_percent : 0.31
ACMG : .
ExAC_cnvZ : 0.670689793926319
ExAC_delZ : 0.0652954789617851
ExAC_dupZ : 0.894892763763837
ExAC_synZ : -0.951232916035886
ExAC_misZ : -0.0604974802456897
GenCC_disease : premature ovarian failure 10
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289
NCBI_gene_ID : 84515
txStart-txEndLocation : txStart-txEnd
CytoBand : p12.3
Location2 : 5'UTR-3'UTR
Tx : NM_001281521
Tx_version : 2
Tx_start : 5950651
Tx_end : 5998977
Exon_count : 19
Overlapped_tx_length : 48326
Overlapped_CDS_length : 2643
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 5950651
Intersect_end : 5998977
608187; OMIM_ID : 608187;
OMIM_phenotype : ?Premature ovarian failure 10, 612885 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : Premature_ovarian_failure_10
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 70138
splitAnnotation_mode : split
MCM8-AS1Gene_name : MCM8-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929225
txStart-txEndLocation : txStart-txEnd
CytoBand : p12.3
Location2 : UTR
Tx : NR_110101
Tx_version : 1
Tx_start : 5990794
Tx_end : 6005821
Exon_count : 5
Overlapped_tx_length : 15027
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 5990794
Intersect_end : 6005821
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (TOP1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 166231
Gene_count : 3
fullAnnotation_mode : full
LOC100128988; LOC105372621; TOP1; [...3genes]Gene_name : LOC100128988; LOC105372621; TOP1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 1.64
ExAC_cnvZ : -1.41151623617141
ExAC_delZ : -2.41588703402856
ExAC_dupZ : -0.836816505234408
ExAC_synZ : 0.425865658646613
ExAC_misZ : 4.70150687382943
Closest_left : SNORD154
Closest_right : PLCG1-AS1
.Location : .
CytoBand : q12
126420; OMIM_ID : 126420;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
MAFB (morbid/RE=EA_enhancer); RE_gene : MAFB (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : DNA topoisomerase I, camptothecin-resistant (3)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:TOP1
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:41028822-41124487
po_P_loss_percent : 1.08; 1.34; 1.41; 50.47
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:40944561-40944635 dbVar; chr20:40973902-40975350 dbVar; chr20:40982032-40983341 dbVar; 20:40982733-40982821 CMRI:75_pbsv.DEL.556_duplicate8; chr20:41012469-41013174 dbVar; chr20:41033196-41033868 dbVar; chr20:41064669-41065119 dbVar
po_B_loss_someG_coord : chr20:40900119-40913267 dbVar; chr20:40972294-40975870 dbVar; 20:40973939-40975343 DDD:54794; chr20:40982733-40982777 HPRC:pbsv.DEL.3151; chr20:40983311-40983438 dbVar; chr20:41031792-41031850 dbVar; chr20:41049146-41049213 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40909467-40911035
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.690
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:41077092-41077219
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.460
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 166231
splitAnnotation_mode : split
TOP1Gene_name : TOP1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 1.64
ACMG : .
ExAC_cnvZ : -1.41151623617141
ExAC_delZ : -2.41588703402856
ExAC_dupZ : -0.836816505234408
ExAC_synZ : 0.425865658646613
ExAC_misZ : 4.70150687382943
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7150
txStart-intron4Location : txStart-intron4
CytoBand : q12
Location2 : 5'UTR-CDS
Tx : NM_003286
Tx_version : 4
Tx_start : 41028821
Tx_end : 41124487
Exon_count : 21
Overlapped_tx_length : 48287
Overlapped_CDS_length : 279
Overlapped_CDS_percent : 12
Frameshift : no
Dist_nearest_SS : 473
Nearest_SS_type : 3'
Intersect_start : 41028821
Intersect_end : 41077108
126420; OMIM_ID : 126420;
OMIM_phenotype : DNA topoisomerase I, camptothecin-resistant (3);
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 166231
splitAnnotation_mode : split
LOC100128988Gene_name : LOC100128988;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_145524
Tx_version : 1
Tx_start : 40980712
Tx_end : 41025396
Exon_count : 4
Overlapped_tx_length : 44684
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40980712
Intersect_end : 41025396
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 166231
splitAnnotation_mode : split
LOC105372621Gene_name : LOC105372621;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : XR_007067586
Tx_version : 1
Tx_start : 40995613
Tx_end : 41005474
Exon_count : 3
Overlapped_tx_length : 9861
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40995613
Intersect_end : 41005474
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (MGME1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 48838
Gene_count : 3
fullAnnotation_mode : full
SNX5; SNORD17; MGME1; [...3genes]Gene_name : SNX5; SNORD17; MGME1;
LOEUF_bin : 3
GnomAD_pLI : 1.8470e-03
ExAC_pLI : 4.4985e-01
HI : .
TS : .
DDD_HI_percent : 62.64
ExAC_cnvZ : -0.502417798572943
ExAC_delZ : 1.07692607938418
ExAC_dupZ : -1.11407915836442
ExAC_synZ : 0.41220171509651
ExAC_misZ : -0.603875196135961
Closest_left : LOC105372548
Closest_right : OVOL2
.Location : .
CytoBand : p11.23
615076; OMIM_ID : 615076;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/[...]RE_gene : BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Mitochondrial DNA depletion syndrome 11, 615084 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965; dbVar:nssv15134157; morbid:MGME1
po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459; 20:17772772-21426789; 20:17969018-17991122
po_P_loss_percent : 0.36; 8.41; 1.34; 10.46
4P_snvindel_nb : 4
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:17922287-17922720
Repeat_type_left : MLT2B1
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.360
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 48838
splitAnnotation_mode : split
MGME1Gene_name : MGME1;
LOEUF_bin : 4
GnomAD_pLI : 1.8470e-03
ExAC_pLI : 3.6143e-03
HI : .
TS : .
DDD_HI_percent : 62.64
ACMG : .
ExAC_cnvZ : -0.823195089307656
ExAC_delZ : 0.470980305649987
ExAC_dupZ : -1.27504941206371
ExAC_synZ : 0.41220171509651
ExAC_misZ : -0.815237074168318
GenCC_disease : mitochondrial DNA depletion syndrome 11
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 23313956; 23313956[PMID]; 25058219; 28097321; 28594148; 28711739
NCBI_gene_ID : 92667
txStart-intron2Location : txStart-intron2
CytoBand : p11.23
Location2 : 5'UTR-CDS
Tx : XM_017028128
Tx_version : 2
Tx_start : 17968589
Tx_end : 17991122
Exon_count : 5
Overlapped_tx_length : 2741
Overlapped_CDS_length : 511
Overlapped_CDS_percent : 49
Frameshift : yes
Dist_nearest_SS : 960
Nearest_SS_type : 5'
Intersect_start : 17968589
Intersect_end : 17971330
615076; OMIM_ID : 615076;
OMIM_phenotype : Mitochondrial DNA depletion syndrome 11, 615084 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
4P_snvindel_nb : 4
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 48838
splitAnnotation_mode : split
SNX5Gene_name : SNX5;
LOEUF_bin : 3
GnomAD_pLI : 1.4460e-03
ExAC_pLI : 4.4985e-01
HI : .
TS : .
DDD_HI_percent : 51.1
ACMG : .
ExAC_cnvZ : -0.502417798572943
ExAC_delZ : 1.07692607938418
ExAC_dupZ : -1.11407915836442
ExAC_synZ : -0.902157362149564
ExAC_misZ : -0.603875196135961
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 27131
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.23
Location2 : 5'UTR-3'UTR
Tx : NM_014426
Tx_version : 4
Tx_start : 17941599
Tx_end : 17968794
Exon_count : 13
Overlapped_tx_length : 27195
Overlapped_CDS_length : 1215
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 17941599
Intersect_end : 17968794
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 48838
splitAnnotation_mode : split
SNORD17Gene_name : SNORD17;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 692086
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.23
Location2 : UTR
Tx : NR_003045
Tx_version : 1
Tx_start : 17962709
Tx_end : 17962946
Exon_count : 1
Overlapped_tx_length : 237
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 17962709
Intersect_end : 17962946
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (CRLS1, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 51494
Gene_count : 3
fullAnnotation_mode : full
MCM8; MCM8-AS1; CRLS1; [...3genes]Gene_name : MCM8; MCM8-AS1; CRLS1;
LOEUF_bin : 5
GnomAD_pLI : 3.1076e-03
ExAC_pLI : 3.3508e-02
HI : .
TS : .
DDD_HI_percent : 35.79
ExAC_cnvZ : 0.766326073232298
ExAC_delZ : 0.634248000685519
ExAC_dupZ : 0.894892763763837
ExAC_synZ : 0.488280520880372
ExAC_misZ : -0.0103810121795492
Closest_left : TRMT6
Closest_right : LRRN4
.Location : .
CytoBand : p12.3
608187; 608188; OMIM_ID : 608187; 608188;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857; morbid:CRLS1
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370; 20:6007249-6040053
po_P_loss_percent : 0.90; 0.37; 0.59; 2.00; 0.62; 44.76; 24.72
2P_snvindel_nb : 2
P_snvindel_phen : Premature_ovarian_failure_10
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:6008123-6008149 HPRC:pbsv.DEL.593;
po_B_loss_someG_coord : chr20:5968621-5971012 dbVar; chr20:6010093-6010812 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5963523-5963835
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.310
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 51494
splitAnnotation_mode : split
CRLS1Gene_name : CRLS1;
LOEUF_bin : 5
GnomAD_pLI : 3.1076e-03
ExAC_pLI : 3.3508e-02
HI : .
TS : .
DDD_HI_percent : 35.79
ACMG : .
ExAC_cnvZ : 0.766326073232298
ExAC_delZ : 0.634248000685519
ExAC_dupZ : 0.544642995721259
ExAC_synZ : 0.488280520880372
ExAC_misZ : -0.0103810121795492
GenCC_disease : combined oxidative phosphorylation deficiency 57
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 35147173
NCBI_gene_ID : 54675
txStart-intron2Location : txStart-intron2
CytoBand : p12.3
Location2 : 5'UTR-CDS
Tx : XM_047440225
Tx_version : 1
Tx_start : 6006122
Tx_end : 6031366
Exon_count : 3
Overlapped_tx_length : 9236
Overlapped_CDS_length : 444
Overlapped_CDS_percent : 96
Frameshift : no
Dist_nearest_SS : 5446
Nearest_SS_type : 5'
Intersect_start : 6006122
Intersect_end : 6015358
608188; OMIM_ID : 608188;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 51494
splitAnnotation_mode : split
MCM8Gene_name : MCM8;
LOEUF_bin : 5
GnomAD_pLI : 1.0536e-16
ExAC_pLI : 1.9289e-10
HI : .
TS : .
DDD_HI_percent : 0.31
ACMG : .
ExAC_cnvZ : 0.670689793926319
ExAC_delZ : 0.0652954789617851
ExAC_dupZ : 0.894892763763837
ExAC_synZ : -0.951232916035886
ExAC_misZ : -0.0604974802456897
GenCC_disease : premature ovarian failure 10
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289
NCBI_gene_ID : 84515
intron8-txEndLocation : intron8-txEnd
CytoBand : p12.3
Location2 : CDS-3'UTR
Tx : NM_001281521
Tx_version : 2
Tx_start : 5950651
Tx_end : 5998977
Exon_count : 19
Overlapped_tx_length : 35113
Overlapped_CDS_length : 1768
Overlapped_CDS_percent : 66
Frameshift : yes
Dist_nearest_SS : 505
Nearest_SS_type : 5'
Intersect_start : 5963864
Intersect_end : 5998977
608187; OMIM_ID : 608187;
OMIM_phenotype : ?Premature ovarian failure 10, 612885 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Premature_ovarian_failure_10
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 51494
splitAnnotation_mode : split
MCM8-AS1Gene_name : MCM8-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929225
txStart-txEndLocation : txStart-txEnd
CytoBand : p12.3
Location2 : UTR
Tx : NR_110101
Tx_version : 1
Tx_start : 5990794
Tx_end : 6005821
Exon_count : 5
Overlapped_tx_length : 15027
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 5990794
Intersect_end : 6005821
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2D-4 (VAPB, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 57130
Gene_count : 2
fullAnnotation_mode : full
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 2.22; 17.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:58462126-58462578 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58497390-58497777
Repeat_type_right : MLT1B
Gap_right : .
GC_content_right : 0.490
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 57130
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron4-txEndLocation : intron4-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 10538
Overlapped_CDS_length : 336
Overlapped_CDS_percent : 45
Frameshift : no
Dist_nearest_SS : 343
Nearest_SS_type : 3'
Intersect_start : 58440563
Intersect_end : 58451101
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 57130
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-txEndLocation : intron2-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 38593
Overlapped_CDS_length : 1457
Overlapped_CDS_percent : 94
Frameshift : yes
Dist_nearest_SS : 16123
Nearest_SS_type : 5'
Intersect_start : 58459100
Intersect_end : 58497693
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2D-4 (VAPB, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 75775
Gene_count : 2
fullAnnotation_mode : full
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 2.94; 47.17
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:58462126-58462578 dbVar
po_B_loss_someG_coord : chr20:58427882-58427920 HPRC:pbsv.DEL.4470
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58497390-58497777
Repeat_type_right : MLT1B
Gap_right : .
GC_content_right : 0.490
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 75775
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron2-txEndLocation : intron2-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 29183
Overlapped_CDS_length : 521
Overlapped_CDS_percent : 71
Frameshift : yes
Dist_nearest_SS : 3555
Nearest_SS_type : 5'
Intersect_start : 58421918
Intersect_end : 58451101
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 75775
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-txEndLocation : intron2-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 38593
Overlapped_CDS_length : 1457
Overlapped_CDS_percent : 94
Frameshift : yes
Dist_nearest_SS : 16123
Nearest_SS_type : 5'
Intersect_start : 58459100
Intersect_end : 58497693
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (CHMP4B, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 46479
Gene_count : 2
fullAnnotation_mode : full
ZNF341-AS1; CHMP4B; [...2genes]Gene_name : ZNF341-AS1; CHMP4B;
LOEUF_bin : 1
GnomAD_pLI : 9.5771e-01
ExAC_pLI : 8.8159e-01
HI : .
TS : .
DDD_HI_percent : 14.15
ExAC_cnvZ : -0.834325021712592
ExAC_delZ : -2.08964540305183
ExAC_dupZ : 0.205502429818189
ExAC_synZ : 1.03265280308015
ExAC_misZ : 2.96408969087311
Closest_left : ZNF341
Closest_right : RALY-AS1
.Location : .
CytoBand : q11.22
610897; OMIM_ID : 610897;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PIGU (morbid/RE=EA_enhancer); RE_gene : PIGU (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Cataract 31, multiple types, 605387 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:CHMP4B
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:33811348-33854366
po_P_loss_percent : 0.30; 1.50; 1.37; 94.13
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33822385-33823753 dbVar; chr20:33824682-33828210 dbVar; chr20:33834529-33834891 dbVar;
po_B_loss_someG_coord : chr20:33813043-33817239 dbVar; chr20:33824662-33830369 dbVar; chr20:33825559-33829019 dbVar; chr20:33843319-33845280 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33805342-33805530
Repeat_type_left : MamRep564
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33851741-33851877
Repeat_type_right : L2c
Gap_right : .
GC_content_right : 0.465
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 46479
splitAnnotation_mode : split
CHMP4BGene_name : CHMP4B;
LOEUF_bin : 1
GnomAD_pLI : 9.5771e-01
ExAC_pLI : 8.8159e-01
HI : .
TS : .
DDD_HI_percent : 14.15
ACMG : .
ExAC_cnvZ : -0.834325021712592
ExAC_delZ : -2.08964540305183
ExAC_dupZ : 0.205502429818189
ExAC_synZ : 1.03265280308015
ExAC_misZ : 2.96408969087311
GenCC_disease : cataract 31 multiple types; early-onset posterior polar cataract; early-onset posterior subcapsular cataract
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 10909854; 17701905; 17701905[PMID]; 17701915; 30078984
NCBI_gene_ID : 128866
txStart-intron3Location : txStart-intron3
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_176812
Tx_version : 5
Tx_start : 33811347
Tx_end : 33854366
Exon_count : 5
Overlapped_tx_length : 40495
Overlapped_CDS_length : 483
Overlapped_CDS_percent : 71
Frameshift : no
Dist_nearest_SS : 234
Nearest_SS_type : 3'
Intersect_start : 33811347
Intersect_end : 33851842
610897; OMIM_ID : 610897;
OMIM_phenotype : Cataract 31, multiple types, 605387 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 46479
splitAnnotation_mode : split
ZNF341-AS1Gene_name : ZNF341-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101929746
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : UTR
Tx : NR_110623
Tx_version : 1
Tx_start : 33787372
Tx_end : 33811099
Exon_count : 4
Overlapped_tx_length : 5736
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5676
Nearest_SS_type : 5'
Intersect_start : 33805363
Intersect_end : 33811099
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (SUN5, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 16329
Gene_count : 2
fullAnnotation_mode : full
SUN5; BPIFB2; [...2genes]Gene_name : SUN5; BPIFB2;
LOEUF_bin : 7
GnomAD_pLI : 4.7491e-12
ExAC_pLI : 7.6888e-08
HI : .
TS : .
DDD_HI_percent : 83.8
ExAC_cnvZ : -0.819516557100972
ExAC_delZ : -1.68290228180418
ExAC_dupZ : 0.546602572629503
ExAC_synZ : -0.0957267407651878
ExAC_misZ : 0.208295931527153
Closest_left : LOC124904887
Closest_right : BPIFB6
.Location : .
CytoBand : q11.21
613942; OMIM_ID : 613942;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
DNMT3B (morbid/RE=EA_enhancer); RE_gene : DNMT3B (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Spermatogenic failure 16, 617187 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; morbid:SUN5
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:32989156-33004433
po_P_loss_percent : 0.11; 0.53; 53.86
1P_snvindel_nb : 1
P_snvindel_phen : Spermatogenic_failure_16
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:33006982-33007844 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32996020-32996259
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33012542-33012710
Repeat_type_right : L3
Gap_right : .
GC_content_right : 0.520
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 16329
splitAnnotation_mode : split
SUN5Gene_name : SUN5;
LOEUF_bin : 7
GnomAD_pLI : 7.7476e-14
ExAC_pLI : 6.5286e-11
HI : .
TS : .
DDD_HI_percent : 83.42
ACMG : .
ExAC_cnvZ : -0.819516557100972
ExAC_delZ : -1.68290228180418
ExAC_dupZ : -0.19582509525969
ExAC_synZ : -0.0957267407651878
ExAC_misZ : 0.109640727640474
GenCC_disease : spermatogenic failure 16
GenCC_moi : AR
GenCC_classification : Strong
GenCC_pmid : 242362; 251278; 251404; 27640305; 282758
NCBI_gene_ID : 140732
txStart-intron8Location : txStart-intron8
CytoBand : q11.21
Location2 : 5'UTR-CDS
Tx : XM_011528573
Tx_version : 2
Tx_start : 32983774
Tx_end : 33004433
Exon_count : 14
Overlapped_tx_length : 8228
Overlapped_CDS_length : 494
Overlapped_CDS_percent : 40
Frameshift : yes
Dist_nearest_SS : 118
Nearest_SS_type : 5'
Intersect_start : 32996205
Intersect_end : 33004433
613942; OMIM_ID : 613942;
OMIM_phenotype : Spermatogenic failure 16, 617187 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Spermatogenic_failure_16
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 16329
splitAnnotation_mode : split
BPIFB2Gene_name : BPIFB2;
LOEUF_bin : 7
GnomAD_pLI : 4.7491e-12
ExAC_pLI : 7.6888e-08
HI : .
TS : .
DDD_HI_percent : 83.8
ACMG : .
ExAC_cnvZ : -1.02676080449048
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.546602572629503
ExAC_synZ : -0.223325866521947
ExAC_misZ : 0.208295931527153
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80341
txStart-intron3Location : txStart-intron3
CytoBand : q11.21
Location2 : 5'UTR-CDS
Tx : NM_025227
Tx_version : 3
Tx_start : 33007703
Tx_end : 33023703
Exon_count : 16
Overlapped_tx_length : 4831
Overlapped_CDS_length : 203
Overlapped_CDS_percent : 14
Frameshift : yes
Dist_nearest_SS : 268
Nearest_SS_type : 3'
Intersect_start : 33007703
Intersect_end : 33012534
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (SLC4A11, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 48935
Gene_count : 2
fullAnnotation_mode : full
SLC4A11; DNAAF9; [...2genes]Gene_name : SLC4A11; DNAAF9;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
Closest_left : ITPA
Closest_right : LOC124904983
.Location : .
CytoBand : p13
610206; OMIM_ID : 610206;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid[...]RE_gene : VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR; Corneal endothelial dystrophy, AR, 217700 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv16213489; morbid:SLC4A11; dbVar:nssv17172690; dbVar:nssv17172689
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735; 20:3227408-3239200; 20:3230555-3238189; 20:3233505-3239200; 20:3234559-3239200
po_P_loss_percent : 0.86; 1.92; 5.82; 0.35; 0.56; 23.74; 23.43; 49.16; 60.32
7P_snvindel_nb : 7
P_snvindel_phen : Corneal_dystrophy,_Fuchs_endothelial,_4
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3236581-3236601 HPRC:pbsv.DEL.347; chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318; chr20:3281257-3281315 dbVar;
po_B_loss_someG_coord : chr20:3236447-3236502 dbVar; chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar; chr20:3281258-3281315 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3236331-3236581
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3285266-3285389; 20:3285399-3285695
Repeat_type_right : FLAM_C; AluSz
Gap_right : .
GC_content_right : 0.520
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 48935
splitAnnotation_mode : split
SLC4A11Gene_name : SLC4A11;
LOEUF_bin : 5
GnomAD_pLI : 4.6435e-15
ExAC_pLI : 1.3673e-08
HI : .
TS : .
DDD_HI_percent : 65.76
ACMG : .
ExAC_cnvZ : -0.410334386032431
ExAC_delZ : 0.143852351231961
ExAC_dupZ : -0.670363301132967
ExAC_synZ : -0.0807870947861307
ExAC_misZ : 1.31098401962572
GenCC_disease : Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; corneal dystrophy, Fuchs endothelial, 4; corneal dystrophy-perceptive deafness syndrome
GenCC_moi : AD; AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16767101[PMID]_24351571[PMID]; 16825429; 17220209; 17220209[PMID]_18922146[PMID]; 17262014; 17397048; 17679935; 18024964; 18474783; 20625449; 2084855; 20848555; 20848555[PMID]; 22072594; 23585771; 24502824; 24916015; 25007886; 28973083; 29327391; 31714402; 36115991
NCBI_gene_ID : 83959
txStart-intron2Location : txStart-intron2
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_017028093
Tx_version : 2
Tx_start : 3227416
Tx_end : 3238189
Exon_count : 20
Overlapped_tx_length : 1789
Overlapped_CDS_length : 217
Overlapped_CDS_percent : 8
Frameshift : yes
Dist_nearest_SS : 1143
Nearest_SS_type : 5'
Intersect_start : 3236400
Intersect_end : 3238189
610206; OMIM_ID : 610206;
OMIM_phenotype : Corneal dystrophy, Fuchs endothelial, 4, 613268 (3);
Corneal endothelial dystrophy and perceptive deafness, 217400 (3) AR;
Corneal endothelial dystrophy, AR, 217700 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
7P_snvindel_nb : 7
P_snvindel_phen : Corneal_dystrophy,_Fuchs_endothelial,_4
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 48935
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron8-txEndLocation : intron8-txEnd
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 36030
Overlapped_CDS_length : 1048
Overlapped_CDS_percent : 58
Frameshift : yes
Dist_nearest_SS : 2296
Nearest_SS_type : 5'
Intersect_start : 3249305
Intersect_end : 3285335
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-1 (LAMA5, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3145
Gene_count : 1
fullAnnotation_mode : full
LAMA5Gene_name : LAMA5;
LOEUF_bin : 1
GnomAD_pLI : 6.4742e-03
ExAC_pLI : 9.4304e-01
HI : .
TS : .
DDD_HI_percent : 63.61
ExAC_cnvZ : -1.53572744678639
ExAC_delZ : -0.411115411986426
ExAC_dupZ : -1.9799993522554
ExAC_synZ : -4.33757037330041
ExAC_misZ : -2.11068945228824
Closest_left : ADRM1
Closest_right : MIR4758
.Location : .
CytoBand : q13.33
601033; OMIM_ID : 601033;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : ?Bent bone dysplasia syndrome 2, 620076 (3) AR; Nephrotic syndrome, type 26, 620049 (3) AR
po_P_loss_hpo : .
po_P_loss_source : morbid:LAMA5
po_P_loss_coord : 20:62319449-62367312
po_P_loss_percent : 6.57
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62325712-62325938; 20:62325939-62326245
Repeat_type_left : L1M5; AluSx1
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62329092-62329141
Repeat_type_right : (CCCTGAC)n
Gap_right : .
GC_content_right : 0.655
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 3145
splitAnnotation_mode : split
LAMA5Gene_name : LAMA5;
LOEUF_bin : 1
GnomAD_pLI : 6.4742e-03
ExAC_pLI : 9.4304e-01
HI : .
TS : .
DDD_HI_percent : 63.61
ACMG : .
ExAC_cnvZ : -1.53572744678639
ExAC_delZ : -0.411115411986426
ExAC_dupZ : -1.9799993522554
ExAC_synZ : -4.33757037330041
ExAC_misZ : -2.11068945228824
GenCC_disease : LAMA5-related multisystemic syndrome; nephrotic syndrome, IIa 26
GenCC_moi : AD; AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 201750; 280460; 28735299[PMID]; 29534211; 3515625
NCBI_gene_ID : 3911
intron33-intron40Location : intron33-intron40
CytoBand : q13.33
Location2 : CDS
Tx : NM_005560
Tx_version : 6
Tx_start : 62309064
Tx_end : 62367312
Exon_count : 80
Overlapped_tx_length : 3145
Overlapped_CDS_length : 1063
Overlapped_CDS_percent : 9
Frameshift : yes
Dist_nearest_SS : 25
Nearest_SS_type : 5'
Intersect_start : 62325967
Intersect_end : 62329112
601033; OMIM_ID : 601033;
OMIM_phenotype : ?Bent bone dysplasia syndrome 2, 620076 (3) AR;
Nephrotic syndrome, type 26, 620049 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-1 (TAF4, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 227
Gene_count : 1
fullAnnotation_mode : full
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
Closest_left : MIR3195
Closest_right : LOC105372705
.Location : .
CytoBand : q13.33
601796; OMIM_ID : 601796;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD
po_P_loss_hpo : .
po_P_loss_source : morbid:TAF4
po_P_loss_coord : 20:61974798-62065881
po_P_loss_percent : 0.25
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62065250-62065329 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62065254-62065302
Repeat_type_left : (GGGCCG)n
Gap_left : .
GC_content_left : 0.870
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.890
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 227
splitAnnotation_mode : split
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ACMG : .
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6874
exon1-exon1Location : exon1-exon1
CytoBand : q13.33
Location2 : CDS
Tx : NM_003185
Tx_version : 4
Tx_start : 61974797
Tx_end : 62065881
Exon_count : 15
Overlapped_tx_length : 227
Overlapped_CDS_length : 227
Overlapped_CDS_percent : 6
Frameshift : yes
Dist_nearest_SS : 829
Nearest_SS_type : 5'
Intersect_start : 62065279
Intersect_end : 62065506
601796; OMIM_ID : 601796;
OMIM_phenotype : Intellectual developmental disorder, AD 73, 620450 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2D-4 (VAPB, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4155
Gene_count : 1
fullAnnotation_mode : full
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 0.16; 6.72
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58441202-58441287
Repeat_type_left : Charlie24
Gap_left : .
GC_content_left : 0.415
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.510
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 4155
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron5-exon6Location : intron5-exon6
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 4155
Overlapped_CDS_length : 159
Overlapped_CDS_percent : 21
Frameshift : no
Dist_nearest_SS : 50
Nearest_SS_type : 5'
Intersect_start : 58441133
Intersect_end : 58445288
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-1 (PTGIS, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 42536
Gene_count : 1
fullAnnotation_mode : full
PTGISGene_name : PTGIS;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
Closest_left : KCNB1
Closest_right : LOC101927486
.Location : .
CytoBand : q13.13
601699; OMIM_ID : 601699;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
KCNB1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : KCNB1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Hypertension, essential, 145500 (3) Multifactorial
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226; morbid:PTGIS
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110; 20:49524851-49568137
po_P_loss_percent : 0.76; 0.96; 1.93; 1.57; 87.46
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49534478-49562489 dbVar; chr20:49539604-49540937 dbVar; chr20:49551394-49551653 dbVar
po_B_loss_someG_coord : chr20:49534334-49562349 dbVar; chr20:49536612-49546953 dbVar; chr20:49545833-49545857 HPRC:pbsv.DEL.3734
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49519839-49520336
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.545
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.595
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 42536
splitAnnotation_mode : split
PTGISGene_name : PTGIS;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
GenCC_disease : essential hypertension, genetic
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 12372404; 31453292; 32236489; 9217767
NCBI_gene_ID : 5740
intron1-intron6Location : intron1-intron6
CytoBand : q13.13
Location2 : CDS
Tx : NM_000961
Tx_version : 4
Tx_start : 49503873
Tx_end : 49568137
Exon_count : 10
Overlapped_tx_length : 42536
Overlapped_CDS_length : 781
Overlapped_CDS_percent : 51
Frameshift : yes
Dist_nearest_SS : 3883
Nearest_SS_type : 5'
Intersect_start : 49520174
Intersect_end : 49562710
601699; OMIM_ID : 601699;
OMIM_phenotype : Hypertension, essential, 145500 (3) Multifactorial;
OMIM_inheritance : Multifactorial
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-1 (IFT52, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5969
Gene_count : 1
fullAnnotation_mode : full
IFT52Gene_name : IFT52;
LOEUF_bin : 4
GnomAD_pLI : 2.0125e-06
ExAC_pLI : 1.6303e-04
HI : .
TS : .
DDD_HI_percent : 21.64
ExAC_cnvZ : -0.957267223159506
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.811247970413386
ExAC_synZ : -0.383710239968146
ExAC_misZ : 0.0585741056901821
Closest_left : SGK2
Closest_right : LOC124904906
.Location : .
CytoBand : q13.12
617094; OMIM_ID : 617094;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:IFT52; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43590937-43647299; 20:43594700-46010118
po_P_loss_percent : 0.04; 0.05; 0.05; 10.59; 0.25
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:43614510-43614567 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43610020-43610323
Repeat_type_left : AluSx
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43616225-43616526
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.395
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 5969
splitAnnotation_mode : split
IFT52Gene_name : IFT52;
LOEUF_bin : 4
GnomAD_pLI : 2.0125e-06
ExAC_pLI : 1.6303e-04
HI : .
TS : .
DDD_HI_percent : 21.64
ACMG : .
ExAC_cnvZ : -0.957267223159506
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.811247970413386
ExAC_synZ : -0.383710239968146
ExAC_misZ : 0.0585741056901821
GenCC_disease : cranioectodermal dysplasia; short-rib thoracic dysplasia 16 with or without polydactyly
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 15182712; 15930098; 26880018; 26880018[PMID]_27466190[PMID]; 27466190; 30242358; 31042281
NCBI_gene_ID : 51098
intron6-intron7Location : intron6-intron7
CytoBand : q13.12
Location2 : CDS
Tx : NM_001303458
Tx_version : 3
Tx_start : 43590936
Tx_end : 43647299
Exon_count : 14
Overlapped_tx_length : 5969
Overlapped_CDS_length : 127
Overlapped_CDS_percent : 9
Frameshift : yes
Dist_nearest_SS : 2211
Nearest_SS_type : 5'
Intersect_start : 43610218
Intersect_end : 43616187
617094; OMIM_ID : 617094;
OMIM_phenotype : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-1 (IFT52, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6426
Gene_count : 1
fullAnnotation_mode : full
IFT52Gene_name : IFT52;
LOEUF_bin : 4
GnomAD_pLI : 2.0125e-06
ExAC_pLI : 1.6303e-04
HI : .
TS : .
DDD_HI_percent : 21.64
ExAC_cnvZ : -0.957267223159506
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.811247970413386
ExAC_synZ : -0.383710239968146
ExAC_misZ : 0.0585741056901821
Closest_left : SGK2
Closest_right : LOC124904906
.Location : .
CytoBand : q13.12
617094; OMIM_ID : 617094;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:IFT52; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43590937-43647299; 20:43594700-46010118
po_P_loss_percent : 0.04; 0.05; 0.05; 11.40; 0.27
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:43600387-43602268 dbVar
po_B_loss_someG_coord : chr20:43597662-43597765 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43594951-43595034; 20:43595035-43595342
Repeat_type_left : AluSc; AluSg7
Gap_left : .
GC_content_left : 0.580
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 6426
splitAnnotation_mode : split
IFT52Gene_name : IFT52;
LOEUF_bin : 4
GnomAD_pLI : 2.0125e-06
ExAC_pLI : 1.6303e-04
HI : .
TS : .
DDD_HI_percent : 21.64
ACMG : .
ExAC_cnvZ : -0.957267223159506
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.811247970413386
ExAC_synZ : -0.383710239968146
ExAC_misZ : 0.0585741056901821
GenCC_disease : cranioectodermal dysplasia; short-rib thoracic dysplasia 16 with or without polydactyly
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 15182712; 15930098; 26880018; 26880018[PMID]_27466190[PMID]; 27466190; 30242358; 31042281
NCBI_gene_ID : 51098
intron2-intron3Location : intron2-intron3
CytoBand : q13.12
Location2 : CDS
Tx : NM_001303458
Tx_version : 3
Tx_start : 43590936
Tx_end : 43647299
Exon_count : 14
Overlapped_tx_length : 6426
Overlapped_CDS_length : 88
Overlapped_CDS_percent : 6
Frameshift : yes
Dist_nearest_SS : 224
Nearest_SS_type : 5'
Intersect_start : 43595041
Intersect_end : 43601467
617094; OMIM_ID : 617094;
OMIM_phenotype : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2D-4 (CHMP4B, +0.90): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and it includes other exons in addition to the last exon. Nonsense-mediated decay is expected to occur.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28432
Gene_count : 1
fullAnnotation_mode : full
CHMP4BGene_name : CHMP4B;
LOEUF_bin : 1
GnomAD_pLI : 9.5771e-01
ExAC_pLI : 8.8159e-01
HI : .
TS : .
DDD_HI_percent : 14.15
ExAC_cnvZ : -0.834325021712592
ExAC_delZ : -2.08964540305183
ExAC_dupZ : 0.205502429818189
ExAC_synZ : 1.03265280308015
ExAC_misZ : 2.96408969087311
Closest_left : ZNF341-AS1
Closest_right : RALY-AS1
.Location : .
CytoBand : q11.22
610897; OMIM_ID : 610897;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PIGU (morbid/RE=EA_enhancer); RE_gene : PIGU (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Cataract 31, multiple types, 605387 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:CHMP4B
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:33811348-33854366
po_P_loss_percent : 0.18; 0.92; 0.84; 46.43
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33843319-33845280 dbVar; chr20:33856126-33856195 dbVar;
po_B_loss_someG_coord : chr20:33834529-33834891 dbVar; chr20:33856111-33856195 dbVar; chr20:33861585-33871826 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33834014-33834302; 20:33834303-33834537
Repeat_type_left : L1MEc; AluJo
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.750
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 28432
splitAnnotation_mode : split
CHMP4BGene_name : CHMP4B;
LOEUF_bin : 1
GnomAD_pLI : 9.5771e-01
ExAC_pLI : 8.8159e-01
HI : .
TS : .
DDD_HI_percent : 14.15
ACMG : .
ExAC_cnvZ : -0.834325021712592
ExAC_delZ : -2.08964540305183
ExAC_dupZ : 0.205502429818189
ExAC_synZ : 1.03265280308015
ExAC_misZ : 2.96408969087311
GenCC_disease : cataract 31 multiple types; early-onset posterior polar cataract; early-onset posterior subcapsular cataract
GenCC_moi : AD
GenCC_classification : Strong; Supportive
GenCC_pmid : 10909854; 17701905; 17701905[PMID]; 17701915; 30078984
NCBI_gene_ID : 128866
intron1-txEndLocation : intron1-txEnd
CytoBand : q11.22
Location2 : CDS-3'UTR
Tx : NM_176812
Tx_version : 5
Tx_start : 33811347
Tx_end : 33854366
Exon_count : 5
Overlapped_tx_length : 19975
Overlapped_CDS_length : 485
Overlapped_CDS_percent : 71
Frameshift : yes
Dist_nearest_SS : 14075
Nearest_SS_type : 3'
Intersect_start : 33834391
Intersect_end : 33854366
610897; OMIM_ID : 610897;
OMIM_phenotype : Cataract 31, multiple types, 605387 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (KIF3B, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12165
Gene_count : 1
fullAnnotation_mode : full
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
Closest_left : LOC124904885
Closest_right : ASXL1
.Location : .
CytoBand : q11.21
603754; OMIM_ID : 603754;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Retinitis pigmentosa 89, 618955 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; morbid:KIF3B
po_P_loss_coord : 20:32236739-47669019; 20:32301770-32335011
po_P_loss_percent : 0.08; 36.60
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:32311424-32311729 HPRC:pbsv.DEL.2556; 20:32311425-32311729 1000g; chr20:32311436-32311729 dbVar;
po_B_loss_someG_coord : 20:32311424-32311729 CMRI:0_pbsv.DEL.438_duplicate7; chr20:32311424-32311729 dbVar; chr20:32311425-32311729 dbVar; chr20:32311436-32311729 gnomAD-SV_v3_DEL_chr20_c52763b3
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32307279-32307617; 20:32307687-32307948
Repeat_type_left : L1ME4b; AluYc
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32319562-32319885; 20:32319905-32320193
Repeat_type_right : AluSx1; AluSx
Gap_right : .
GC_content_right : 0.480
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 12165
splitAnnotation_mode : split
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ACMG : .
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
GenCC_disease : ciliopathy; retinitis pigmentosa 89
GenCC_moi : AD
GenCC_classification : Limited; Moderate; Strong
GenCC_pmid : 32386558
NCBI_gene_ID : 9371
intron1-intron5Location : intron1-intron5
CytoBand : q11.21
Location2 : 5'UTR-CDS
Tx : NM_004798
Tx_version : 4
Tx_start : 32277650
Tx_end : 32335011
Exon_count : 9
Overlapped_tx_length : 12165
Overlapped_CDS_length : 1748
Overlapped_CDS_percent : 77
Frameshift : yes
Dist_nearest_SS : 2063
Nearest_SS_type : 3'
Intersect_start : 32307649
Intersect_end : 32319814
603754; OMIM_ID : 603754;
OMIM_phenotype : Retinitis pigmentosa 89, 618955 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-1 (NAPB, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
NAPBGene_name : NAPB;
LOEUF_bin : 3
GnomAD_pLI : 1.1216e-01
ExAC_pLI : 9.8911e-01
HI : .
TS : .
DDD_HI_percent : 26.98
ExAC_cnvZ : 0.0827375113194787
ExAC_delZ : 0.667163056353785
ExAC_dupZ : -0.26229857760535
ExAC_synZ : 0.428676553480397
ExAC_misZ : 1.36903491640498
Closest_left : GZF1
Closest_right : CSTL1
.Location : .
CytoBand : p11.21
611270; OMIM_ID : 611270;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
CST3 (morbid/RE=EA_enhancer); RE_gene : CST3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690
po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817
po_P_loss_percent : 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:23378029-23378337
Repeat_type_right : AluJb
Gap_right : .
GC_content_right : 0.385
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
NAPBGene_name : NAPB;
LOEUF_bin : 3
GnomAD_pLI : 1.1216e-01
ExAC_pLI : 9.8911e-01
HI : .
TS : .
DDD_HI_percent : 26.98
ACMG : .
ExAC_cnvZ : 0.0827375113194787
ExAC_delZ : 0.667163056353785
ExAC_dupZ : -0.26229857760535
ExAC_synZ : 0.428676553480397
ExAC_misZ : 1.36903491640498
GenCC_disease : developmental and epileptic encephalopathy 107
GenCC_moi : AR
GenCC_classification : Strong
GenCC_pmid : 26235277; 28097321
NCBI_gene_ID : 63908
intron8-exon9Location : intron8-exon9
CytoBand : p11.21
Location2 : CDS
Tx : XM_047440357
Tx_version : 1
Tx_start : 23374521
Tx_end : 23397143
Exon_count : 9
Overlapped_tx_length : 500
Overlapped_CDS_length : 29
Overlapped_CDS_percent : 4
Frameshift : yes
Dist_nearest_SS : 29
Nearest_SS_type : 3'
Intersect_start : 23377457
Intersect_end : 23377957
611270; OMIM_ID : 611270;
OMIM_phenotype : Developmental and epileptic encephalopathy 107, 620033 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-1 (PLCB4, +0.90): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and disrupts the reading frame
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 7243
Gene_count : 1
fullAnnotation_mode : full
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
Closest_left : LOC105372522
Closest_right : LAMP5-AS1
.Location : .
CytoBand : p12.2
600810; OMIM_ID : 600810;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Auriculocondylar syndrome 2A, 614669 (3) AD; Auriculocondylar syndrome 2B, 620458 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; morbid:PLCB4
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9403006-9480808
po_P_loss_percent : 0.05; 0.08; 0.09; 0.11; 0.21; 0.05; 9.31
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:9417321-9419183
Repeat_type_left : L1MB7
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.450
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 7243
splitAnnotation_mode : split
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ACMG : .
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857
NCBI_gene_ID : 5332
intron24-intron27Location : intron24-intron27
CytoBand : p12.2
Location2 : CDS
Tx : NM_001377134
Tx_version : 2
Tx_start : 9068677
Tx_end : 9480808
Exon_count : 39
Overlapped_tx_length : 7243
Overlapped_CDS_length : 473
Overlapped_CDS_percent : 13
Frameshift : yes
Dist_nearest_SS : 1188
Nearest_SS_type : 5'
Intersect_start : 9417897
Intersect_end : 9425140
600810; OMIM_ID : 600810;
OMIM_phenotype : Auriculocondylar syndrome 2A, 614669 (3) AD;
Auriculocondylar syndrome 2B, 620458 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
4ACMG_class : 4
AnnotSV_ranking_score : 0.9
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2C-1 (PLCB4, +0.90): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and coding sequence is involved
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3568
Gene_count : 1
fullAnnotation_mode : full
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
Closest_left : LOC105372522
Closest_right : LAMP5-AS1
.Location : .
CytoBand : p12.2
600810; OMIM_ID : 600810;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012
po_P_loss_percent : 0.03; 0.04; 0.04; 0.05; 0.10; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:9371436-9371506
Repeat_type_right : (TTCC)n
Gap_right : .
GC_content_right : 0.345
full=4ACMG_class : full=4
DELSV_type : DEL
SV_length : 3568
splitAnnotation_mode : split
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ACMG : .
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857
NCBI_gene_ID : 5332
txStart-intron2Location : txStart-intron2
CytoBand : p12.2
Location2 : 5'UTR-CDS
Tx : XM_011529254
Tx_version : 3
Tx_start : 9368948
Tx_end : 9480808
Exon_count : 32
Overlapped_tx_length : 2478
Overlapped_CDS_length : 105
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 131
Nearest_SS_type : 5'
Intersect_start : 9368948
Intersect_end : 9371426
600810; OMIM_ID : 600810;
OMIM_phenotype : Auriculocondylar syndrome 2A, 614669 (3) AD;
Auriculocondylar syndrome 2B, 620458 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 30091
Gene_count : 3
fullAnnotation_mode : full
LOC105376995; CRMA; MIR1-1HG; [...3genes]Gene_name : LOC105376995; CRMA; MIR1-1HG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 99.44
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904947
Closest_right : MIR1-1
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486
po_P_loss_percent : 1.62; 2.17; 1.66; 1.90; 0.36
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 20:62528861-62529523 IMH;
po_B_loss_someG_coord : chr20:62528860-62529523 gnomAD-SV_v3_DEL_chr20_ddfde6b8; chr20:62539919-62539944 HPRC:pbsv.DEL.5208
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62521118-62521837
Repeat_type_left : L1MC2
Gap_left : .
GC_content_left : 0.465
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.730
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 30091
splitAnnotation_mode : split
MIR1-1HGGene_name : MIR1-1HG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 99.44
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128826
txStart-intron1Location : txStart-intron1
CytoBand : q13.33
Location2 : UTR
Tx : NR_171007
Tx_version : 1
Tx_start : 62550452
Tx_end : 62570764
Exon_count : 4
Overlapped_tx_length : 1090
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 504
Nearest_SS_type : 5'
Intersect_start : 62550452
Intersect_end : 62551542
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 30091
splitAnnotation_mode : split
LOC105376995Gene_name : LOC105376995;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : XR_936978
Tx_version : 3
Tx_start : 62534007
Tx_end : 62536708
Exon_count : 3
Overlapped_tx_length : 2701
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62534007
Intersect_end : 62536708
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 30091
splitAnnotation_mode : split
CRMAGene_name : CRMA;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 253868
exon1-txEndLocation : exon1-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_033263
Tx_version : 1
Tx_start : 62543069
Tx_end : 62551561
Exon_count : 7
Overlapped_tx_length : 8473
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 117
Nearest_SS_type : 5'
Intersect_start : 62543069
Intersect_end : 62551542
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 54398
Gene_count : 3
fullAnnotation_mode : full
C20orf173; ERGIC3; FER1L4; [...3genes]Gene_name : C20orf173; ERGIC3; FER1L4;
LOEUF_bin : 4
GnomAD_pLI : 2.2416e-05
ExAC_pLI : 3.8591e-03
HI : .
TS : .
DDD_HI_percent : 90.45
ExAC_cnvZ : -0.754597917507887
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.37434719683734
ExAC_synZ : 0.688530072870984
ExAC_misZ : 2.22740356986199
Closest_left : CEP250-AS1
Closest_right : LOC124904891
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.35; 1.76; 1.60; 0.44; 11.85
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35539312-35539335 HPRC:pbsv.DEL.2789
po_B_loss_someG_coord : chr20:35539287-35539335 HPRC:pbsv.DEL.2788
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35575160-35575472; 20:35575473-35575779
Repeat_type_right : L1MC4a; AluSc
Gap_right : .
GC_content_right : 0.400
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 54398
splitAnnotation_mode : split
ERGIC3Gene_name : ERGIC3;
LOEUF_bin : 4
GnomAD_pLI : 2.2416e-05
ExAC_pLI : 3.8591e-03
HI : .
TS : .
DDD_HI_percent : 32.69
ACMG : .
ExAC_cnvZ : -0.754597917507887
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.37434719683734
ExAC_synZ : 0.688530072870984
ExAC_misZ : 2.22740356986199
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51614
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : NM_198398
Tx_version : 2
Tx_start : 35542077
Tx_end : 35557634
Exon_count : 14
Overlapped_tx_length : 15557
Overlapped_CDS_length : 1167
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35542077
Intersect_end : 35557634
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 54398
splitAnnotation_mode : split
C20orf173Gene_name : C20orf173;
LOEUF_bin : 7
GnomAD_pLI : 1.0938e-06
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 90.45
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140873
txStart-exon12Location : txStart-exon12
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : XM_047439904
Tx_version : 1
Tx_start : 35520806
Tx_end : 35529652
Exon_count : 12
Overlapped_tx_length : 8661
Overlapped_CDS_length : 609
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : 152
Nearest_SS_type : 3'
Intersect_start : 35520991
Intersect_end : 35529652
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 54398
splitAnnotation_mode : split
FER1L4Gene_name : FER1L4;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80307
intron35-txEndLocation : intron35-txEnd
CytoBand : q11.22
Location2 : UTR
Tx : NR_119376
Tx_version : 1
Tx_start : 35558736
Tx_end : 35607562
Exon_count : 43
Overlapped_tx_length : 16653
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 777
Nearest_SS_type : 5'
Intersect_start : 35558736
Intersect_end : 35575389
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 58784
Gene_count : 3
fullAnnotation_mode : full
BPIFB6; BPIFB3; BPIFB4; [...3genes]Gene_name : BPIFB6; BPIFB3; BPIFB4;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 75.5
ExAC_cnvZ : -1.38037498651695
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.0233423878970298
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.66641686925995
Closest_left : BPIFB2
Closest_right : LOC105372714
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
DNMT3B (morbid/RE=EA_enhancer); RE_gene : DNMT3B (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.38; 1.90
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33064626-33075377 dbVar; chr20:33086422-33086475 dbVar; 20:33093545-33093648 CMRI:6_pbsv.DEL.751_duplicate7; 20:33093546-33093648 esv2659207;
po_B_loss_someG_coord : chr20:33052542-33052566 HPRC:pbsv.DEL.2623; chr20:33074267-33077556 dbVar; chr20:33086566-33087384 dbVar; chr20:33093545-33093648 HPRC:pbsv.DEL.2626; chr20:33094216-33106994 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33036799-33036940; 20:33037004-33037123
Repeat_type_left : MIR1_Amn; MIR
Gap_left : .
GC_content_left : 0.580
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33095588-33095734
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.415
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 58784
splitAnnotation_mode : split
BPIFB6Gene_name : BPIFB6;
LOEUF_bin : 7
GnomAD_pLI : 2.8058e-13
ExAC_pLI : 1.2013e-11
HI : .
TS : .
DDD_HI_percent : 75.5
ACMG : .
ExAC_cnvZ : -1.38037498651695
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.0233423878970298
ExAC_synZ : -0.98443416001835
ExAC_misZ : -0.66641686925995
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128859
intron7-txEndLocation : intron7-txEnd
CytoBand : q11.21
Location2 : CDS-3'UTR
Tx : XM_017027663
Tx_version : 1
Tx_start : 33031647
Tx_end : 33044108
Exon_count : 15
Overlapped_tx_length : 7144
Overlapped_CDS_length : 693
Overlapped_CDS_percent : 49
Frameshift : no
Dist_nearest_SS : 428
Nearest_SS_type : 5'
Intersect_start : 33036964
Intersect_end : 33044108
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 58784
splitAnnotation_mode : split
BPIFB3Gene_name : BPIFB3;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 72.06
ACMG : .
ExAC_cnvZ : -1.5926808300207
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.247525500012051
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.676082883446531
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 359710
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001376932
Tx_version : 3
Tx_start : 33053902
Tx_end : 33073847
Exon_count : 16
Overlapped_tx_length : 19945
Overlapped_CDS_length : 1419
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 33053902
Intersect_end : 33073847
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 58784
splitAnnotation_mode : split
BPIFB4Gene_name : BPIFB4;
LOEUF_bin : 7
GnomAD_pLI : 4.6976e-21
ExAC_pLI : 3.4659e-17
HI : .
TS : .
DDD_HI_percent : 69.82
ACMG : .
ExAC_cnvZ : -1.76721570748308
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.423619863791745
ExAC_synZ : -0.579456501887006
ExAC_misZ : -1.19098729274072
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 149954
txStart-intron12Location : txStart-intron12
CytoBand : q11.21
Location2 : 5'UTR-CDS
Tx : NM_182519
Tx_version : 3
Tx_start : 33079642
Tx_end : 33111751
Exon_count : 18
Overlapped_tx_length : 16106
Overlapped_CDS_length : 1398
Overlapped_CDS_percent : 75
Frameshift : no
Dist_nearest_SS : 595
Nearest_SS_type : 5'
Intersect_start : 33079642
Intersect_end : 33095748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 96106
Gene_count : 3
fullAnnotation_mode : full
LOC107985400; LOC105372582; FAM182B; [...3genes]Gene_name : LOC107985400; LOC105372582; FAM182B;
LOEUF_bin : 9
GnomAD_pLI : 8.7202e-02
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 92.73
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : ZNF337
Closest_right : LOC101926935
.Location : .
CytoBand : p11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664
po_P_loss_coord : 20:18520274-25866684
po_P_loss_percent : 1.31
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:25761053-25761347 HPRC:pbsv.DEL.1859; 20:25779224-25779410 CMRI:0_pbsv.DEL.341_duplicate10; chr20:25783207-25845155 HPRC:pbsv.DEL.1868; chr20:25809364-25814364 dbVar;
po_B_loss_someG_coord : chr20:25739231-25742307 dbVar; chr20:25762179-25762265 dbVar; chr20:25779224-25779410 HPRC:pbsv.DEL.1865; chr20:25797364-25803364 dbVar; chr20:25817364-25822364 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:25752457-25845152; 20:25794647-25833697; 20:25798702-25845152; 20:25806801-25845152; 20:25806803-25845152; 20:25806803-25845152; 20:25811477-25845152; 20:25816277-25845152; 20:25818361-25845152
Repeat_coord_right : 20:25829244-25829522; 20:25829613-25829890
Repeat_type_right : AluSz; AluSx1
Gap_right : .
GC_content_right : 0.440
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 96106
splitAnnotation_mode : split
FAM182BGene_name : FAM182B;
LOEUF_bin : 9
GnomAD_pLI : 8.7202e-02
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 92.73
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 728882
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : NR_027061
Tx_version : 3
Tx_start : 25763451
Tx_end : 25796108
Exon_count : 5
Overlapped_tx_length : 32657
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25763451
Intersect_end : 25796108
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 96106
splitAnnotation_mode : split
LOC107985400Gene_name : LOC107985400;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-txEndLocation : intron1-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : XR_007067556
Tx_version : 1
Tx_start : 25697040
Tx_end : 25748142
Exon_count : 2
Overlapped_tx_length : 14697
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 823
Nearest_SS_type : 3'
Intersect_start : 25733445
Intersect_end : 25748142
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 96106
splitAnnotation_mode : split
LOC105372582Gene_name : LOC105372582;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : NR_135006
Tx_version : 1
Tx_start : 25751207
Tx_end : 25756050
Exon_count : 2
Overlapped_tx_length : 4843
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25751207
Intersect_end : 25756050
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (3 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 62036
Gene_count : 3
fullAnnotation_mode : full
LINC00851; DZANK1; LOC124904877; [...3genes]Gene_name : LINC00851; DZANK1; LOC124904877;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LOC107985418
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.46; 1.70
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:18435052-18435114 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18373894-18374164; 20:18374165-18374714
Repeat_type_left : AluSx; L1PA13
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18435833-18436309
Repeat_type_right : L1M4a2
Gap_right : .
GC_content_right : 0.315
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 62036
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron1-txEndLocation : intron1-txEnd
CytoBand : p11.23
Location2 : CDS-3'UTR
Tx : XM_017027921
Tx_version : 3
Tx_start : 18383366
Tx_end : 18442927
Exon_count : 14
Overlapped_tx_length : 52773
Overlapped_CDS_length : 1530
Overlapped_CDS_percent : 99
Frameshift : no
Dist_nearest_SS : 2374
Nearest_SS_type : 3'
Intersect_start : 18383366
Intersect_end : 18436139
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 62036
splitAnnotation_mode : split
LOC124904877Gene_name : LOC124904877;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.23
Location2 : UTR
Tx : XR_007067546
Tx_version : 1
Tx_start : 18389823
Tx_end : 18400109
Exon_count : 2
Overlapped_tx_length : 10286
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 18389823
Intersect_end : 18400109
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 62036
splitAnnotation_mode : split
LINC00851Gene_name : LINC00851;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 440757
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.23
Location2 : UTR
Tx : NR_034167
Tx_version : 1
Tx_start : 18379048
Tx_end : 18381484
Exon_count : 2
Overlapped_tx_length : 2436
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 18379048
Intersect_end : 18381484
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28165
Gene_count : 2
fullAnnotation_mode : full
MIR1257; TAF4; [...2genes]Gene_name : MIR1257; TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
Closest_left : LOC100128310
Closest_right : LOC105372704
.Location : .
CytoBand : q13.33
601796; OMIM_ID : 601796;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PISD (morbid/RE=mTL_miRNA); RPS7 (morbid/RE=m[...]RE_gene : PISD (morbid/RE=mTL_miRNA); RPS7 (morbid/RE=mTL_miRNA); COL18A1 (morbid/RE=mTL_miRNA); DCX (HI=3/morbid/RE=mTL_miRNA); PIGS (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); ATP7A (HI=3/morbid/RE=mTL_miRNA); SLC25A46 (morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); KIF23 (morbid/RE=mTL_miRNA); TMEM70 (morbid/RE=mTL_miRNA); TNPO3 (morbid/RE=mTL_miRNA); SNAP29 (morbid/RE=mTL_miRNA); PCCB (morbid/RE=mTL_miRNA); COL4A4 (morbid/RE=mTL_miRNA); SPART (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); NDUFA12 (morbid/RE=mTL_miRNA); TNR (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); EXOSC2 (morbid/RE=mTL_miRNA); REL (morbid/RE=mTL_miRNA); DDX3X (HI=3/morbid/RE=mTL_miRNA); MET (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD
po_P_loss_hpo : .
po_P_loss_source : morbid:TAF4
po_P_loss_coord : 20:61974798-62065881
po_P_loss_percent : 3.87
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:61941788-61959104 dbVar; 20:61951232-61951537 CMRI:2_pbsv.DEL.1165_duplicate11; chr20:61951232-61951537 dbVar; chr20:61951246-61951537 gnomAD-SV_v3_DEL_chr20_927c55b3; chr20:61966679-61966709 HPRC:pbsv.DEL.4993; chr20:61970036-61972750 dbVar; 20:61970871-61970933 CMRI:2_pbsv.DEL.1167_duplicate9; chr20:61970905-61970966 dbVar; chr20:61977040-61977073 HPRC:pbsv.DEL.5005; 20:61978150-61978206 CMRI:26_pbsv.DEL.775_duplicate7;
po_B_loss_someG_coord : chr20:61939719-61962534 dbVar; chr20:61951156-61951386 gnomAD-SV_v3_DEL_chr20_eb906a5f; chr20:61951232-61951537 HPRC:pbsv.DEL.4991; chr20:61951246-61951537 dbVar; chr20:61952081-61952113 HPRC:pbsv.DEL.4992; chr20:61969883-61969970 dbVar; 20:61970836-61971332 CMRI:1_pbsv.DEL.830_duplicate9; chr20:61970871-61970933 HPRC:pbsv.DEL.4999; 20:61971023-61971519 CMRI:29_pbsv.DEL.1674_duplicate4; chr20:61978043-61978108 dbVar; chr20:61978201-61978263 HPRC:pbsv.DEL.5006
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.645
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.680
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28165
splitAnnotation_mode : split
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ACMG : .
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6874
intron15-txEndLocation : intron15-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : XM_047440429
Tx_version : 1
Tx_start : 61974797
Tx_end : 62065863
Exon_count : 16
Overlapped_tx_length : 3526
Overlapped_CDS_length : 168
Overlapped_CDS_percent : 7
Frameshift : no
Dist_nearest_SS : 1988
Nearest_SS_type : 3'
Intersect_start : 61974797
Intersect_end : 61978323
601796; OMIM_ID : 601796;
OMIM_phenotype : Intellectual developmental disorder, AD 73, 620450 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28165
splitAnnotation_mode : split
MIR1257Gene_name : MIR1257;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302168
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_031658
Tx_version : 1
Tx_start : 61953545
Tx_end : 61953662
Exon_count : 1
Overlapped_tx_length : 117
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 61953545
Intersect_end : 61953662
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:61939719-61962534; chr20:61941788-61959104
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 36876
Gene_count : 2
fullAnnotation_mode : full
MIR1257; TAF4; [...2genes]Gene_name : MIR1257; TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
Closest_left : LOC100128310
Closest_right : LOC105372704
.Location : .
CytoBand : q13.33
601796; OMIM_ID : 601796;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
EXOSC2 (morbid/RE=mTL_miRNA); SPRTN (morbid/R[...]RE_gene : EXOSC2 (morbid/RE=mTL_miRNA); SPRTN (morbid/RE=mTL_miRNA); TNR (morbid/RE=mTL_miRNA); NDUFA12 (morbid/RE=mTL_miRNA); MET (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA); REL (morbid/RE=mTL_miRNA); DDX3X (HI=3/morbid/RE=mTL_miRNA); COL4A4 (morbid/RE=mTL_miRNA); PCCB (morbid/RE=mTL_miRNA); SPART (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); KIF23 (morbid/RE=mTL_miRNA); NHS (HI=3/morbid/RE=mTL_miRNA); SNAP29 (morbid/RE=mTL_miRNA); TNPO3 (morbid/RE=mTL_miRNA); TMEM70 (morbid/RE=mTL_miRNA); DCX (HI=3/morbid/RE=mTL_miRNA); COL18A1 (morbid/RE=mTL_miRNA); PIGS (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); PISD (morbid/RE=mTL_miRNA); RPS7 (morbid/RE=mTL_miRNA); ATP7A (HI=3/morbid/RE=mTL_miRNA); SLC25A46 (morbid/RE=mTL_miRNA);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD
po_P_loss_hpo : .
po_P_loss_source : morbid:TAF4
po_P_loss_coord : 20:61974798-62065881
po_P_loss_percent : 7.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:61941788-61959104 dbVar; chr20:61942797-61949608 HPRC:pbsv.DEL.4965; 20:61943191-61945118 CMRI:3_pbsv.DEL.1388_duplicate4; chr20:61943591-61945118 HPRC:pbsv.DEL.4971; chr20:61943613-61945990 HPRC:pbsv.DEL.4972; chr20:61943713-61945490 HPRC:pbsv.DEL.4973; chr20:61944061-61946638 HPRC:pbsv.DEL.4974; 20:61944918-61948101 CMRI:104_pbsv.DEL.1006_duplicate4; 20:61945084-61948117 CMRI:5_pbsv.DEL.1168_duplicate7; 20:61945183-61947869 CMRI:7_pbsv.DEL.1007_duplicate6; 20:61945234-61945284 CMRI:32_pbsv.DEL.1155_duplicate6; chr20:61945256-61948739 HPRC:pbsv.DEL.4978; chr20:61945815-61946758 HPRC:pbsv.DEL.4979; chr20:61945973-61948456 HPRC:pbsv.DEL.4980; 20:61946486-61948619 CMRI:2_pbsv.DEL.1164_duplicate10; chr20:61946882-61947682 HPRC:pbsv.DEL.4986; 20:61948210-61948559 CMRI:131_pbsv.DEL.1134_duplicate8; chr20:61948416-61948466 HPRC:pbsv.DEL.4989; chr20:61949091-61949145 dbVar; 20:61951232-61951537 CMRI:2_pbsv.DEL.1165_duplicate11...
po_B_loss_someG_coord : chr20:61939719-61962534 dbVar; 20:61942797-61949608 CMRI:39_pbsv.DEL.1116_duplicate9; chr20:61943057-61947954 gnomAD-SV_v3_DEL_chr20_91020148; chr20:61943555-61945632 HPRC:pbsv.DEL.4970; 20:61943613-61945990 CMRI:7_pbsv.DEL.1004_duplicate4; 20:61943623-61947340 CMRI:5_pbsv.DEL.1165_duplicate6; 20:61943755-61945632 CMRI:3_pbsv.DEL.1389_duplicate9; 20:61944652-61945999 CMRI:12_pbsv.DEL.1073_duplicate9; 20:61944953-61947093 CMRI:3_pbsv.DEL.1390_duplicate7; chr20:61945120-61947510 HPRC:pbsv.DEL.4976; chr20:61945183-61947869 HPRC:pbsv.DEL.4977; 20:61945256-61948739 CMRI:5_pbsv.DEL.1169_duplicate7; 20:61945449-61947689 CMRI:2_pbsv.DEL.1160_duplicate10; 20:61945818-61947961 IMH; chr20:61946018-61946068 HPRC:pbsv.DEL.4981; chr20:61946633-61947073 HPRC:pbsv.DEL.4984; chr20:61946989-61948132 HPRC:pbsv.DEL.4987; chr20:61948268-61948469 HPRC:pbsv.DEL.4988; 20:61948456-61948506 CMRI:77_pbsv.DEL.1210_duplicate7; chr20:61951156-61951386 gnomAD-SV_v3_DEL_chr20_eb906a5f...
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:61942997-61945723
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.675
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:61980879-61981683
Repeat_type_right : L1MC4
Gap_right : .
GC_content_right : 0.515
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 36876
splitAnnotation_mode : split
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ACMG : .
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6874
intron15-txEndLocation : intron15-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : XM_047440429
Tx_version : 1
Tx_start : 61974797
Tx_end : 62065863
Exon_count : 16
Overlapped_tx_length : 6456
Overlapped_CDS_length : 168
Overlapped_CDS_percent : 7
Frameshift : no
Dist_nearest_SS : 4918
Nearest_SS_type : 3'
Intersect_start : 61974797
Intersect_end : 61981253
601796; OMIM_ID : 601796;
OMIM_phenotype : Intellectual developmental disorder, AD 73, 620450 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 36876
splitAnnotation_mode : split
MIR1257Gene_name : MIR1257;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302168
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_031658
Tx_version : 1
Tx_start : 61953545
Tx_end : 61953662
Exon_count : 1
Overlapped_tx_length : 117
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 61953545
Intersect_end : 61953662
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:61939719-61962534; chr20:61941788-61959104
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2D-1 (VAPB,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11936
Gene_count : 2
fullAnnotation_mode : full
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 0.46; 1.66
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58461665-58462098
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11936
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
exon3-txEndLocation : exon3-txEnd
CytoBand : q13.32
Location2 : 3'UTR
Tx : NM_001195677
Tx_version : 2
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 3
Overlapped_tx_length : 1027
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5998
Nearest_SS_type : 3'
Intersect_start : 58450074
Intersect_end : 58451101
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11936
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron4-txEndLocation : intron4-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 2910
Overlapped_CDS_length : 765
Overlapped_CDS_percent : 49
Frameshift : no
Dist_nearest_SS : 456
Nearest_SS_type : 3'
Intersect_start : 58459100
Intersect_end : 58462010
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 16991
Gene_count : 2
fullAnnotation_mode : full
LOC105372581; GINS1; [...2genes]Gene_name : LOC105372581; GINS1;
LOEUF_bin : 7
GnomAD_pLI : 7.7028e-07
ExAC_pLI : 5.0037e-02
HI : .
TS : .
DDD_HI_percent : 32.55
ExAC_cnvZ : -1.6665899309683
ExAC_delZ : -1.4727134938276
ExAC_dupZ : -1.730483909924
ExAC_synZ : 0.0808015926334467
ExAC_misZ : 0.458459257830594
Closest_left : ABHD12
Closest_right : NINL
.Location : .
CytoBand : p11.21
610608; OMIM_ID : 610608;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Immunodeficiency 55, 617827 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664; dbVar:nssv18787413; morbid:GINS1
po_P_loss_coord : 20:18520274-25866684; 20:25339208-25445991; 20:25411117-25448563
po_P_loss_percent : 0.23; 15.91; 30.63
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:25406881-25655474 dbVar
po_B_loss_someG_coord : chr20:25388034-25406872 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:25405382-25405522; 20:25405523-25406173
Repeat_type_left : AluSx; LTR8
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:25422294-25422606; 20:25422607-25422777
Repeat_type_right : AluJb; L1ME3B
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 16991
splitAnnotation_mode : split
GINS1Gene_name : GINS1;
LOEUF_bin : 7
GnomAD_pLI : 7.7028e-07
ExAC_pLI : 5.0037e-02
HI : .
TS : .
DDD_HI_percent : 32.55
ACMG : .
ExAC_cnvZ : -1.6665899309683
ExAC_delZ : -1.4727134938276
ExAC_dupZ : -1.730483909924
ExAC_synZ : 0.0808015926334467
ExAC_misZ : 0.458459257830594
GenCC_disease : combined immunodeficiency due to GINS1 deficiency
GenCC_moi : AR
GenCC_classification : Limited; Supportive
GenCC_pmid : 28414293; 28414293[PMID]; 31630891
NCBI_gene_ID : 9837
txStart-intron6Location : txStart-intron6
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : XM_047440625
Tx_version : 1
Tx_start : 25407672
Tx_end : 25425291
Exon_count : 7
Overlapped_tx_length : 14914
Overlapped_CDS_length : 579
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : 1598
Nearest_SS_type : 5'
Intersect_start : 25407672
Intersect_end : 25422586
610608; OMIM_ID : 610608;
OMIM_phenotype : Immunodeficiency 55, 617827 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:25406881-25655474
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 16991
splitAnnotation_mode : split
LOC105372581Gene_name : LOC105372581;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron1Location : txStart-intron1
CytoBand : p11.21
Location2 : UTR
Tx : XR_937403
Tx_version : 3
Tx_start : 25394649
Tx_end : 25408295
Exon_count : 3
Overlapped_tx_length : 2700
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2475
Nearest_SS_type : 5'
Intersect_start : 25405595
Intersect_end : 25408295
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 55142
Gene_count : 2
fullAnnotation_mode : full
SPTLC3; TASP1; [...2genes]Gene_name : SPTLC3; TASP1;
LOEUF_bin : 2
GnomAD_pLI : 6.0781e-01
ExAC_pLI : 9.5618e-01
HI : .
TS : .
DDD_HI_percent : 55.96
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.500280966939094
ExAC_dupZ : -1.41345273995757
ExAC_synZ : 0.0691917854096639
ExAC_misZ : 2.01302221772351
Closest_left : LINC01723
Closest_right : ISM1
.Location : .
CytoBand : p12.1
608270; OMIM_ID : 608270;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012
po_P_loss_percent : 0.39; 0.81; 0.41
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:13100969-13100997 HPRC:pbsv.DEL.1030
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13090564-13091010
Repeat_type_left : L1ME3A
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13145148-13145914
Repeat_type_right : L1PREC2
Gap_right : .
GC_content_right : 0.350
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 55142
splitAnnotation_mode : split
TASP1Gene_name : TASP1;
LOEUF_bin : 2
GnomAD_pLI : 6.0781e-01
ExAC_pLI : 9.5618e-01
HI : .
TS : .
DDD_HI_percent : 7.4
ACMG : .
ExAC_cnvZ : -1.50411977290555
ExAC_delZ : -0.500280966939094
ExAC_dupZ : -1.89914906672369
ExAC_synZ : 0.0691917854096639
ExAC_misZ : 2.01302221772351
GenCC_disease : Suleiman-El-Hattab syndrome
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 16951254; 29633245; 31209944; 31350873
NCBI_gene_ID : 55617
intron14-txEndLocation : intron14-txEnd
CytoBand : p12.1
Location2 : UTR
Tx : XR_001754319
Tx_version : 3
Tx_start : 13104771
Tx_end : 13638932
Exon_count : 15
Overlapped_tx_length : 40878
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 40392
Nearest_SS_type : 3'
Intersect_start : 13104771
Intersect_end : 13145649
608270; OMIM_ID : 608270;
OMIM_phenotype : Suleiman-El-Hattab syndrome, 618950 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 55142
splitAnnotation_mode : split
SPTLC3Gene_name : SPTLC3;
LOEUF_bin : 4
GnomAD_pLI : 3.2277e-07
ExAC_pLI : 2.7552e-03
HI : .
TS : .
DDD_HI_percent : 55.96
ACMG : .
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.716653814749956
ExAC_dupZ : -1.41345273995757
ExAC_synZ : -0.300391139079614
ExAC_misZ : 0.282423350871239
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55304
intron4-intron9Location : intron4-intron9
CytoBand : p12.1
Location2 : CDS
Tx : XM_011529279
Tx_version : 2
Tx_start : 13008971
Tx_end : 13164471
Exon_count : 12
Overlapped_tx_length : 55142
Overlapped_CDS_length : 672
Overlapped_CDS_percent : 42
Frameshift : no
Dist_nearest_SS : 575
Nearest_SS_type : 3'
Intersect_start : 13090507
Intersect_end : 13145649
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 44391
Gene_count : 2
fullAnnotation_mode : full
SPTLC3; TASP1; [...2genes]Gene_name : SPTLC3; TASP1;
LOEUF_bin : 2
GnomAD_pLI : 6.0781e-01
ExAC_pLI : 9.5618e-01
HI : .
TS : .
DDD_HI_percent : 55.96
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.500280966939094
ExAC_dupZ : -1.41345273995757
ExAC_synZ : 0.0691917854096639
ExAC_misZ : 2.01302221772351
Closest_left : LINC01723
Closest_right : ISM1
.Location : .
CytoBand : p12.1
608270; OMIM_ID : 608270;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012
po_P_loss_percent : 0.32; 0.66; 0.33
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:13100969-13100997 HPRC:pbsv.DEL.1030
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13090564-13091010
Repeat_type_left : L1ME3A
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13134765-13134814
Repeat_type_right : GA-rich
Gap_right : .
GC_content_right : 0.415
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 44391
splitAnnotation_mode : split
TASP1Gene_name : TASP1;
LOEUF_bin : 2
GnomAD_pLI : 6.0781e-01
ExAC_pLI : 9.5618e-01
HI : .
TS : .
DDD_HI_percent : 7.4
ACMG : .
ExAC_cnvZ : -1.50411977290555
ExAC_delZ : -0.500280966939094
ExAC_dupZ : -1.89914906672369
ExAC_synZ : 0.0691917854096639
ExAC_misZ : 2.01302221772351
GenCC_disease : Suleiman-El-Hattab syndrome
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 16951254; 29633245; 31209944; 31350873
NCBI_gene_ID : 55617
intron14-txEndLocation : intron14-txEnd
CytoBand : p12.1
Location2 : UTR
Tx : XR_001754319
Tx_version : 3
Tx_start : 13104771
Tx_end : 13638932
Exon_count : 15
Overlapped_tx_length : 30127
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 29641
Nearest_SS_type : 3'
Intersect_start : 13104771
Intersect_end : 13134898
608270; OMIM_ID : 608270;
OMIM_phenotype : Suleiman-El-Hattab syndrome, 618950 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 44391
splitAnnotation_mode : split
SPTLC3Gene_name : SPTLC3;
LOEUF_bin : 4
GnomAD_pLI : 3.2277e-07
ExAC_pLI : 2.7552e-03
HI : .
TS : .
DDD_HI_percent : 55.96
ACMG : .
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.716653814749956
ExAC_dupZ : -1.41345273995757
ExAC_synZ : -0.300391139079614
ExAC_misZ : 0.282423350871239
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55304
intron4-intron9Location : intron4-intron9
CytoBand : p12.1
Location2 : CDS
Tx : XM_011529279
Tx_version : 2
Tx_start : 13008971
Tx_end : 13164471
Exon_count : 12
Overlapped_tx_length : 44391
Overlapped_CDS_length : 672
Overlapped_CDS_percent : 42
Frameshift : no
Dist_nearest_SS : 575
Nearest_SS_type : 3'
Intersect_start : 13090507
Intersect_end : 13134898
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 74170
Gene_count : 2
fullAnnotation_mode : full
SPTLC3; TASP1; [...2genes]Gene_name : SPTLC3; TASP1;
LOEUF_bin : 2
GnomAD_pLI : 6.0781e-01
ExAC_pLI : 9.5618e-01
HI : .
TS : .
DDD_HI_percent : 55.96
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.500280966939094
ExAC_dupZ : -1.41345273995757
ExAC_synZ : 0.0691917854096639
ExAC_misZ : 2.01302221772351
Closest_left : LINC01723
Closest_right : ISM1
.Location : .
CytoBand : p12.1
608270; OMIM_ID : 608270;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012
po_P_loss_percent : 0.53; 1.09; 0.55
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:13087010-13089866 dbVar;
po_B_loss_someG_coord : chr20:13077725-13085583 dbVar; chr20:13100969-13100997 HPRC:pbsv.DEL.1030
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13071116-13071624
Repeat_type_left : MER75
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13145148-13145914
Repeat_type_right : L1PREC2
Gap_right : .
GC_content_right : 0.350
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 74170
splitAnnotation_mode : split
TASP1Gene_name : TASP1;
LOEUF_bin : 2
GnomAD_pLI : 6.0781e-01
ExAC_pLI : 9.5618e-01
HI : .
TS : .
DDD_HI_percent : 7.4
ACMG : .
ExAC_cnvZ : -1.50411977290555
ExAC_delZ : -0.500280966939094
ExAC_dupZ : -1.89914906672369
ExAC_synZ : 0.0691917854096639
ExAC_misZ : 2.01302221772351
GenCC_disease : Suleiman-El-Hattab syndrome
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 16951254; 29633245; 31209944; 31350873
NCBI_gene_ID : 55617
intron14-txEndLocation : intron14-txEnd
CytoBand : p12.1
Location2 : UTR
Tx : XR_001754319
Tx_version : 3
Tx_start : 13104771
Tx_end : 13638932
Exon_count : 15
Overlapped_tx_length : 40878
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 40392
Nearest_SS_type : 3'
Intersect_start : 13104771
Intersect_end : 13145649
608270; OMIM_ID : 608270;
OMIM_phenotype : Suleiman-El-Hattab syndrome, 618950 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 74170
splitAnnotation_mode : split
SPTLC3Gene_name : SPTLC3;
LOEUF_bin : 4
GnomAD_pLI : 3.2277e-07
ExAC_pLI : 2.7552e-03
HI : .
TS : .
DDD_HI_percent : 55.96
ACMG : .
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.716653814749956
ExAC_dupZ : -1.41345273995757
ExAC_synZ : -0.300391139079614
ExAC_misZ : 0.282423350871239
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55304
intron2-intron9Location : intron2-intron9
CytoBand : p12.1
Location2 : CDS
Tx : XM_011529279
Tx_version : 2
Tx_start : 13008971
Tx_end : 13164471
Exon_count : 12
Overlapped_tx_length : 74170
Overlapped_CDS_length : 976
Overlapped_CDS_percent : 62
Frameshift : yes
Dist_nearest_SS : 776
Nearest_SS_type : 3'
Intersect_start : 13071479
Intersect_end : 13145649
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 13258
Gene_count : 2
fullAnnotation_mode : full
MIR1-1HG; MIR133A2; [...2genes]Gene_name : MIR1-1HG; MIR133A2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 99.44
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1-1
Closest_right : LINC02970
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
LDLRAP1 (morbid/RE=mTL_miRNA); ARPC5 (morbid/[...]RE_gene : LDLRAP1 (morbid/RE=mTL_miRNA); ARPC5 (morbid/RE=mTL_miRNA); NCDN (morbid/RE=mTL_miRNA); PRDM16 (morbid/RE=mTL_miRNA); MSN (morbid/RE=mTL_miRNA); MYPN (morbid/RE=mTL_miRNA); MMP9 (morbid/RE=mTL_miRNA); IGF1R (HI=3/morbid/RE=mTL_miRNA); NR4A2 (HI=3/morbid/RE=mTL_miRNA); NEUROD1 (morbid/RE=mTL_miRNA); CDC42 (morbid/RE=mTL_miRNA); PNP (morbid/RE=mTL_miRNA); HCN2 (morbid/RE=mTL_miRNA); COL1A1 (HI=3/morbid/RE=mTL_miRNA); SGMS2 (morbid/RE=mTL_miRNA); SOX4 (morbid/RE=mTL_miRNA)...; RPA1 (morbid/RE=mTL_miRNA); PIK3R2 (morbid/RE=mTL_miRNA); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); ERBB2 (morbid/RE=mTL_miRNA); PACS2 (morbid/RE=mTL_miRNA); NR3C1 (morbid/RE=mTL_miRNA); FBN1 (HI=3/morbid/RE=mTL_miRNA); RNF168 (morbid/RE=mTL_miRNA); PLEKHG2 (morbid/RE=mTL_miRNA); KCNH2 (HI=3/morbid/RE=mTL_miRNA); CACNA1C (morbid/RE=mTL_miRNA); MC2R (morbid/RE=mTL_miRNA); RFT1 (morbid/RE=mTL_miRNA); SERPINH1 (morbid/RE=mTL_miRNA); MYO3A (morbid/RE=mTL_miRNA); ATP13A3 (morbid/RE=mTL_miRNA); SFTPB (morbid/RE=mTL_miRNA); IGF1 (morbid/RE=mTL_miRNA); CCDC39 (morbid/RE=mTL_miRNA); FTL (morbid/RE=mTL_miRNA); PRRT2 (HI=3/morbid/RE=mTL_miRNA); EGFR (morbid/RE=mTL_miRNA); PGM2L1 (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); ARHGAP31 (morbid/RE=mTL_miRNA); NACC1 (morbid/RE=mTL_miRNA); PLEKHM1 (morbid/RE=mTL_miRNA); IBA57 (morbid/RE=mTL_miRNA); HCN4 (morbid/RE=mTL_miRNA); RHOA (morbid/RE=mTL_miRNA); KCNQ1 (HI=3/morbid/RE=mTL_miRNA); DNAJB6 (morbid/RE=mTL_miRNA); RBPJ (morbid/RE=mTL_miRNA);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321
po_P_loss_percent : 0.71; 0.96; 0.73; 0.84; 0.78; 0.77; 0.77
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:62574396-62575647 dbVar
po_B_loss_someG_coord : chr20:62566534-62566613 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.645
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.575
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13258
splitAnnotation_mode : split
MIR133A2Gene_name : MIR133A2;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 406923
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_029676
Tx_version : 1
Tx_start : 62564911
Tx_end : 62565013
Exon_count : 1
Overlapped_tx_length : 102
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62564911
Intersect_end : 62565013
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13258
splitAnnotation_mode : split
MIR1-1HGGene_name : MIR1-1HG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 99.44
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128826
intron2-txEndLocation : intron2-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_171007
Tx_version : 1
Tx_start : 62550452
Tx_end : 62570764
Exon_count : 4
Overlapped_tx_length : 8168
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2392
Nearest_SS_type : 3'
Intersect_start : 62562596
Intersect_end : 62570764
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 992
Gene_count : 2
fullAnnotation_mode : full
CRMA; MIR1-1HG; [...2genes]Gene_name : CRMA; MIR1-1HG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 99.44
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105376995
Closest_right : MIR1-1
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486
po_P_loss_percent : 0.05; 0.07; 0.05; 0.06; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62550498-62550525
Repeat_type_left : (CCCTC)n
Gap_left : .
GC_content_left : 0.710
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.730
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 992
splitAnnotation_mode : split
CRMAGene_name : CRMA;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 253868
exon1-intron1Location : exon1-intron1
CytoBand : q13.33
Location2 : UTR
Tx : NR_033263
Tx_version : 1
Tx_start : 62543069
Tx_end : 62551561
Exon_count : 7
Overlapped_tx_length : 992
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 117
Nearest_SS_type : 5'
Intersect_start : 62550550
Intersect_end : 62551542
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 992
splitAnnotation_mode : split
MIR1-1HGGene_name : MIR1-1HG;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 99.44
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128826
exon1-intron1Location : exon1-intron1
CytoBand : q13.33
Location2 : UTR
Tx : NR_171007
Tx_version : 1
Tx_start : 62550452
Tx_end : 62570764
Exon_count : 4
Overlapped_tx_length : 992
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 488
Nearest_SS_type : 5'
Intersect_start : 62550550
Intersect_end : 62551542
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 16770
Gene_count : 2
fullAnnotation_mode : full
SS18L1; MTG2; [...2genes]Gene_name : SS18L1; MTG2;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : 0.17073896031188
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:62184154-62185202 dbVar;
po_B_loss_someG_coord : 20:62184152-62185211 DDD:55221; chr20:62185351-62195070 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62175407-62175554
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.635
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62192000-62192831
Repeat_type_right : MER21C
Gap_right : .
GC_content_right : 0.545
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 16770
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron11-txEndLocation : intron11-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : NM_001301778
Tx_version : 2
Tx_start : 62143768
Tx_end : 62182514
Exon_count : 12
Overlapped_tx_length : 7186
Overlapped_CDS_length : 27
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 684
Nearest_SS_type : 5'
Intersect_start : 62175328
Intersect_end : 62182514
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 16770
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
txStart-intron1Location : txStart-intron1
CytoBand : q13.33
Location2 : 5'UTR-CDS
Tx : XM_024451869
Tx_version : 2
Tx_start : 62188533
Tx_end : 62203568
Exon_count : 8
Overlapped_tx_length : 3565
Overlapped_CDS_length : 43
Overlapped_CDS_percent : 3
Frameshift : yes
Dist_nearest_SS : 1317
Nearest_SS_type : 3'
Intersect_start : 62188533
Intersect_end : 62192098
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:62185351-62195070
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 2
fullAnnotation_mode : full
LOC105372666; LOC124904931; [...2genes]Gene_name : LOC105372666; LOC124904931;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372667
Closest_right : LOC105372665
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150235; dbVar:nssv15134928
po_P_loss_coord : 20:49011308-53428941; 20:50781991-52792847
po_P_loss_percent : 0.02; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:52490892-52491372 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:52491242-52491967
Repeat_type_left : L1PA7
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.430
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
LOC124904931Gene_name : LOC124904931;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : q13.2
Location2 : UTR
Tx : XR_007067654
Tx_version : 1
Tx_start : 52488058
Tx_end : 52500591
Exon_count : 2
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3026
Nearest_SS_type : 3'
Intersect_start : 52491288
Intersect_end : 52492288
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
LOC105372666Gene_name : LOC105372666;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron3-intron3Location : intron3-intron3
CytoBand : q13.2
Location2 : UTR
Tx : XR_001754671
Tx_version : 2
Tx_start : 52210642
Tx_end : 52571981
Exon_count : 7
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 38599
Nearest_SS_type : 3'
Intersect_start : 52491288
Intersect_end : 52492288
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 66935
Gene_count : 2
fullAnnotation_mode : full
NCOA3; SULF2; [...2genes]Gene_name : NCOA3; SULF2;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
Closest_left : LINC01754
Closest_right : LOC124904922
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morb[...]RE_gene : SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.16; 0.57; 1.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:47657452-47666761 dbVar; chr20:47681951-47682154 dbVar; chr20:47710086-47710700 gnomAD-SV_v3_DEL_chr20_e3fe021e; 20:47710215-47710700 IMH; 20:47710219-47710717 1000g;
po_B_loss_someG_coord : chr20:47645423-47646035 dbVar; chr20:47681949-47682154 dbVar; chr20:47703145-47706648 dbVar; chr20:47710214-47710719 dbVar; chr20:47710218-47710717 dbVar; 20:47710219-47710717 esv3645974
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47644697-47644995
Repeat_type_left : AluSx3
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:47711686-47711744; 20:47711746-47711998
Repeat_type_right : ORSL-2a; (CA)n
Gap_right : .
GC_content_right : 0.345
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 66935
splitAnnotation_mode : split
NCOA3Gene_name : NCOA3;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 16.22
ACMG : .
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.511158738801683
ExAC_misZ : -0.505371555325067
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8202
intron17-txEndLocation : intron17-txEnd
CytoBand : q13.12
Location2 : CDS-3'UTR
Tx : NM_181659
Tx_version : 3
Tx_start : 47501886
Tx_end : 47656872
Exon_count : 23
Overlapped_tx_length : 12057
Overlapped_CDS_length : 1023
Overlapped_CDS_percent : 23
Frameshift : no
Dist_nearest_SS : 2257
Nearest_SS_type : 3'
Intersect_start : 47644815
Intersect_end : 47656872
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 66935
splitAnnotation_mode : split
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ACMG : .
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55959
intron3-txEndLocation : intron3-txEnd
CytoBand : q13.12
Location2 : CDS-3'UTR
Tx : NM_001387055
Tx_version : 1
Tx_start : 47657405
Tx_end : 47764428
Exon_count : 21
Overlapped_tx_length : 54345
Overlapped_CDS_length : 2201
Overlapped_CDS_percent : 84
Frameshift : yes
Dist_nearest_SS : 9080
Nearest_SS_type : 3'
Intersect_start : 47657405
Intersect_end : 47711750
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3782
Gene_count : 2
fullAnnotation_mode : full
R3HDML; R3HDML-AS1; [...2genes]Gene_name : R3HDML; R3HDML-AS1;
LOEUF_bin : 7
GnomAD_pLI : 1.8840e-06
ExAC_pLI : 2.9962e-03
HI : .
TS : .
DDD_HI_percent : 63.29
ExAC_cnvZ : -0.144496452166577
ExAC_delZ : -1.45450427777896
ExAC_dupZ : 0.959452735507536
ExAC_synZ : 0.193058532972109
ExAC_misZ : -0.256665374053704
Closest_left : FITM2
Closest_right : HNF4A
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv16254073; dbVar:nssv17683423
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44149494-44450551; 20:44352548-44358480
po_P_loss_percent : 0.02; 0.03; 0.03; 0.16; 1.26; 33.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:44353935-44354036 dbVar
po_B_loss_someG_coord : chr20:44351345-44351430 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:44354187-44354447
Repeat_type_right : AluSg
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3782
splitAnnotation_mode : split
R3HDMLGene_name : R3HDML;
LOEUF_bin : 7
GnomAD_pLI : 1.8840e-06
ExAC_pLI : 2.9962e-03
HI : .
TS : .
DDD_HI_percent : 63.29
ACMG : .
ExAC_cnvZ : -0.144496452166577
ExAC_delZ : -1.45450427777896
ExAC_dupZ : 0.959452735507536
ExAC_synZ : 0.193058532972109
ExAC_misZ : -0.256665374053704
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140902
exon5-txEndLocation : exon5-txEnd
CytoBand : q13.12
Location2 : CDS-3'UTR
Tx : NM_178491
Tx_version : 4
Tx_start : 44337042
Tx_end : 44351238
Exon_count : 5
Overlapped_tx_length : 504
Overlapped_CDS_length : 58
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 75
Nearest_SS_type : 3'
Intersect_start : 44350734
Intersect_end : 44351238
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3782
splitAnnotation_mode : split
R3HDML-AS1Gene_name : R3HDML-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105372629
intron1-exon3Location : intron1-exon3
CytoBand : q13.12
Location2 : UTR
Tx : NR_184036
Tx_version : 1
Tx_start : 44347551
Tx_end : 44355242
Exon_count : 4
Overlapped_tx_length : 3782
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 115
Nearest_SS_type : 5'
Intersect_start : 44350734
Intersect_end : 44354516
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 2
fullAnnotation_mode : full
LOC101927182; PTPRT; [...2genes]Gene_name : LOC101927182; PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : LOC105372622
Closest_right : LOC105372624
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:42087244-42087546; 20:42087547-42087559; 20:42087579-42087593; 20:42087594-42087895
Repeat_type_left : AluSc8; (ATT)n; (AGA)n; AluSg4
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.575
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron27-intron27Location : intron27-intron27
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1688
Nearest_SS_type : 3'
Intersect_start : 42087541
Intersect_end : 42088041
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
LOC101927182Gene_name : LOC101927182;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : q12
Location2 : UTR
Tx : XR_001754611
Tx_version : 2
Tx_start : 41903847
Tx_end : 42108504
Exon_count : 6
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2537
Nearest_SS_type : 3'
Intersect_start : 42087541
Intersect_end : 42088041
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 35753
Gene_count : 2
fullAnnotation_mode : full
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MAFB
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.23; 0.29; 0.30
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40748904-40749123
Repeat_type_right : MamRep564
Gap_right : .
GC_content_right : 0.490
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 35753
splitAnnotation_mode : split
LOC101927098Gene_name : LOC101927098;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron3Location : txStart-intron3
CytoBand : q12
Location2 : UTR
Tx : NR_187686
Tx_version : 1
Tx_start : 40696848
Tx_end : 40717430
Exon_count : 5
Overlapped_tx_length : 4360
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1241
Nearest_SS_type : 5'
Intersect_start : 40713070
Intersect_end : 40717430
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 35753
splitAnnotation_mode : split
SNORD154Gene_name : SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109623474
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_145814
Tx_version : 1
Tx_start : 40714571
Tx_end : 40714623
Exon_count : 1
Overlapped_tx_length : 52
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40714571
Intersect_end : 40714623
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 20387
Gene_count : 2
fullAnnotation_mode : full
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MAFB
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.13; 0.16; 0.17
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40732950-40733639
Repeat_type_right : L1M6
Gap_right : .
GC_content_right : 0.345
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 20387
splitAnnotation_mode : split
LOC101927098Gene_name : LOC101927098;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron3Location : txStart-intron3
CytoBand : q12
Location2 : UTR
Tx : NR_187686
Tx_version : 1
Tx_start : 40696848
Tx_end : 40717430
Exon_count : 5
Overlapped_tx_length : 4360
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1241
Nearest_SS_type : 5'
Intersect_start : 40713070
Intersect_end : 40717430
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 20387
splitAnnotation_mode : split
SNORD154Gene_name : SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109623474
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_145814
Tx_version : 1
Tx_start : 40714571
Tx_end : 40714623
Exon_count : 1
Overlapped_tx_length : 52
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40714571
Intersect_end : 40714623
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 38553
Gene_count : 2
fullAnnotation_mode : full
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MAFB
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.25; 0.31; 0.33
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40710146-40710396
Repeat_type_left : MIR
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40748904-40749123
Repeat_type_right : MamRep564
Gap_right : .
GC_content_right : 0.490
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 38553
splitAnnotation_mode : split
SNORD154Gene_name : SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109623474
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_145814
Tx_version : 1
Tx_start : 40714571
Tx_end : 40714623
Exon_count : 1
Overlapped_tx_length : 52
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40714571
Intersect_end : 40714623
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 38553
splitAnnotation_mode : split
LOC101927098Gene_name : LOC101927098;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron4Location : txStart-intron4
CytoBand : q12
Location2 : UTR
Tx : NR_187686
Tx_version : 1
Tx_start : 40696848
Tx_end : 40717430
Exon_count : 5
Overlapped_tx_length : 7160
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 494
Nearest_SS_type : 5'
Intersect_start : 40710270
Intersect_end : 40717430
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28951
Gene_count : 2
fullAnnotation_mode : full
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MAFB
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.19; 0.23; 0.24
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40710146-40710396
Repeat_type_left : MIR
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28951
splitAnnotation_mode : split
LOC101927098Gene_name : LOC101927098;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron4Location : txStart-intron4
CytoBand : q12
Location2 : UTR
Tx : NR_187686
Tx_version : 1
Tx_start : 40696848
Tx_end : 40717430
Exon_count : 5
Overlapped_tx_length : 7160
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 494
Nearest_SS_type : 5'
Intersect_start : 40710270
Intersect_end : 40717430
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28951
splitAnnotation_mode : split
SNORD154Gene_name : SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109623474
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_145814
Tx_version : 1
Tx_start : 40714571
Tx_end : 40714623
Exon_count : 1
Overlapped_tx_length : 52
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40714571
Intersect_end : 40714623
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 23187
Gene_count : 2
fullAnnotation_mode : full
LOC101927098; SNORD154; [...2genes]Gene_name : LOC101927098; SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MAFB
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.15; 0.19; 0.20
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40710146-40710396
Repeat_type_left : MIR
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40732950-40733639
Repeat_type_right : L1M6
Gap_right : .
GC_content_right : 0.345
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 23187
splitAnnotation_mode : split
SNORD154Gene_name : SNORD154;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109623474
txStart-txEndLocation : txStart-txEnd
CytoBand : q12
Location2 : UTR
Tx : NR_145814
Tx_version : 1
Tx_start : 40714571
Tx_end : 40714623
Exon_count : 1
Overlapped_tx_length : 52
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 40714571
Intersect_end : 40714623
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 23187
splitAnnotation_mode : split
LOC101927098Gene_name : LOC101927098;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron4Location : txStart-intron4
CytoBand : q12
Location2 : UTR
Tx : NR_187686
Tx_version : 1
Tx_start : 40696848
Tx_end : 40717430
Exon_count : 5
Overlapped_tx_length : 7160
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 494
Nearest_SS_type : 5'
Intersect_start : 40710270
Intersect_end : 40717430
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6027
Gene_count : 2
fullAnnotation_mode : full
DSN1; LOC124904894; [...2genes]Gene_name : DSN1; LOC124904894;
LOEUF_bin : 5
GnomAD_pLI : 8.8514e-08
ExAC_pLI : 1.7236e-06
HI : .
TS : .
DDD_HI_percent : 39.3
ExAC_cnvZ : -0.902961652516508
ExAC_delZ : -2.25532262459
ExAC_dupZ : 0.146828913675919
ExAC_synZ : 0.695684675093976
ExAC_misZ : 0.330551369029732
Closest_left : NDRG3
Closest_right : MTCL2
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SRC (morbid/RE=EA_enhancer); SAMHD1 (morbid/R[...]RE_gene : SRC (morbid/RE=EA_enhancer); SAMHD1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.04; 0.18; 0.05; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:36770578-36770703
Repeat_type_left : FLAM_A
Gap_left : .
GC_content_left : 0.425
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:36776443-36776740; 20:36776741-36777118
Repeat_type_right : AluSp; MLT1F
Gap_right : .
GC_content_right : 0.550
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6027
splitAnnotation_mode : split
DSN1Gene_name : DSN1;
LOEUF_bin : 5
GnomAD_pLI : 8.8514e-08
ExAC_pLI : 1.7236e-06
HI : .
TS : .
DDD_HI_percent : 39.3
ACMG : .
ExAC_cnvZ : -0.902961652516508
ExAC_delZ : -2.25532262459
ExAC_dupZ : 0.146828913675919
ExAC_synZ : 0.695684675093976
ExAC_misZ : 0.330551369029732
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79980
txStart-intron3Location : txStart-intron3
CytoBand : q11.23
Location2 : 5'UTR-CDS
Tx : NM_001145315
Tx_version : 2
Tx_start : 36751794
Tx_end : 36773763
Exon_count : 11
Overlapped_tx_length : 3049
Overlapped_CDS_length : 355
Overlapped_CDS_percent : 33
Frameshift : yes
Dist_nearest_SS : 158
Nearest_SS_type : 5'
Intersect_start : 36770714
Intersect_end : 36773763
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6027
splitAnnotation_mode : split
LOC124904894Gene_name : LOC124904894;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron1Location : txStart-intron1
CytoBand : q11.23
Location2 : UTR
Tx : XR_007067574
Tx_version : 1
Tx_start : 36775134
Tx_end : 36777092
Exon_count : 2
Overlapped_tx_length : 1607
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 63
Nearest_SS_type : 3'
Intersect_start : 36775134
Intersect_end : 36776741
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 2
fullAnnotation_mode : full
EPB41L1; EPB41L1-AS1; [...2genes]Gene_name : EPB41L1; EPB41L1-AS1;
LOEUF_bin : 1
GnomAD_pLI : 8.7683e-01
ExAC_pLI : 6.4539e-01
HI : .
TS : .
DDD_HI_percent : 14.68
ExAC_cnvZ : -0.561625519817853
ExAC_delZ : -2.18179646605149
ExAC_dupZ : 0.888946118316426
ExAC_synZ : 0.938713644808799
ExAC_misZ : 2.47478471649415
Closest_left : NORAD
Closest_right : LOC124904893
.Location : .
CytoBand : q11.23
602879; OMIM_ID : 602879;
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.00; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:36150792-36150905; 20:36150988-36151087
Repeat_type_left : L2c; MIR3
Gap_left : .
GC_content_left : 0.555
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:36151343-36151470
Repeat_type_right : MIRc
Gap_right : .
GC_content_right : 0.450
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
EPB41L1Gene_name : EPB41L1;
LOEUF_bin : 1
GnomAD_pLI : 8.7683e-01
ExAC_pLI : 6.4539e-01
HI : .
TS : .
DDD_HI_percent : 14.68
ACMG : .
ExAC_cnvZ : -0.561625519817853
ExAC_delZ : -2.18179646605149
ExAC_dupZ : 0.888946118316426
ExAC_synZ : 0.938713644808799
ExAC_misZ : 2.47478471649415
GenCC_disease : autosomal dominant non-syndromic intellectual disability; complex neurodevelopmental disorder; intellectual disability, autosomal dominant 40
GenCC_moi : AD
GenCC_classification : Limited; Supportive
GenCC_pmid : 21376300; 21376300[PMID]
NCBI_gene_ID : 2036
intron2-intron2Location : intron2-intron2
CytoBand : q11.23
Location2 : 5'UTR
Tx : NM_001258331
Tx_version : 2
Tx_start : 36091413
Tx_end : 36232799
Exon_count : 20
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 24096
Nearest_SS_type : 3'
Intersect_start : 36150954
Intersect_end : 36151454
602879; OMIM_ID : 602879;
OMIM_phenotype : ?Intellectual developmental disorder, AD 11, 614257 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
EPB41L1-AS1Gene_name : EPB41L1-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100130373
intron2-intron2Location : intron2-intron2
CytoBand : q11.23
Location2 : UTR
Tx : NR_147703
Tx_version : 1
Tx_start : 36147280
Tx_end : 36155760
Exon_count : 4
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1044
Nearest_SS_type : 3'
Intersect_start : 36150954
Intersect_end : 36151454
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 51998
Gene_count : 2
fullAnnotation_mode : full
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 1.00355903616856
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.34; 1.53; 0.42; 1.76
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35736655-35736950
Repeat_type_left : AluSc
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35788587-35788874
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 51998
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron3Location : txStart-intron3
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 5510
Overlapped_CDS_length : 101
Overlapped_CDS_percent : 6
Frameshift : yes
Dist_nearest_SS : 2217
Nearest_SS_type : 5'
Intersect_start : 35736750
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 51998
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 16734
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 12742
Nearest_SS_type : 3'
Intersect_start : 35772014
Intersect_end : 35788748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 71831
Gene_count : 2
fullAnnotation_mode : full
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 1.00355903616856
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22-q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.47; 2.12; 0.58; 3.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar;
po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35802656-35802959
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 71831
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron4Location : txStart-intron4
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 11445
Overlapped_CDS_length : 296
Overlapped_CDS_percent : 19
Frameshift : yes
Dist_nearest_SS : 1125
Nearest_SS_type : 5'
Intersect_start : 35730815
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 71831
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
txStart-intron2Location : txStart-intron2
CytoBand : q11.22-q11.23
Location2 : 5'UTR-CDS
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 30632
Overlapped_CDS_length : 83
Overlapped_CDS_percent : 2
Frameshift : yes
Dist_nearest_SS : 1041
Nearest_SS_type : 5'
Intersect_start : 35772014
Intersect_end : 35802646
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 57933
Gene_count : 2
fullAnnotation_mode : full
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 1.00355903616856
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.38; 1.71; 0.47; 3.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar; chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar; chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35788587-35788874
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.520
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 57933
Gene_count : 2
fullAnnotation_mode : full
RBM39; PHF20; [...2genes]Gene_name : RBM39; PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 1.00355903616856
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.38; 1.71; 0.47; 3.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar; chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar; chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar; chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35788587-35788874
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 57933
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 16734
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 12742
Nearest_SS_type : 3'
Intersect_start : 35772014
Intersect_end : 35788748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 57933
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron4Location : txStart-intron4
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 11445
Overlapped_CDS_length : 296
Overlapped_CDS_percent : 19
Frameshift : yes
Dist_nearest_SS : 1125
Nearest_SS_type : 5'
Intersect_start : 35730815
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 57933
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 16734
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 12742
Nearest_SS_type : 3'
Intersect_start : 35772014
Intersect_end : 35788748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 57933
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron4Location : txStart-intron4
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 11445
Overlapped_CDS_length : 296
Overlapped_CDS_percent : 19
Frameshift : yes
Dist_nearest_SS : 1125
Nearest_SS_type : 5'
Intersect_start : 35730815
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28599
Gene_count : 2
fullAnnotation_mode : full
CPNE1; RBM12; [...2genes]Gene_name : CPNE1; RBM12;
LOEUF_bin : 4
GnomAD_pLI : 2.1086e-03
ExAC_pLI : 4.7467e-01
HI : .
TS : .
DDD_HI_percent : 31.02
ExAC_cnvZ : -1.74880955339683
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.0224675137589206
ExAC_synZ : 0.497981592999118
ExAC_misZ : 0.843417796536372
Closest_left : SPAG4
Closest_right : NFS1
.Location : .
CytoBand : q11.22
607179; OMIM_ID : 607179;
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=[...]RE_gene : PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.19; 0.92; 0.84; 0.23; 6.23
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.585
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28599
splitAnnotation_mode : split
RBM12Gene_name : RBM12;
LOEUF_bin : 4
GnomAD_pLI : 2.1086e-03
ExAC_pLI : 4.7467e-01
HI : .
TS : .
DDD_HI_percent : 14.23
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.047566760715049
ExAC_misZ : 0.843417796536372
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10137
intron1-txEndLocation : intron1-txEnd
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : NM_001198838
Tx_version : 2
Tx_start : 35648924
Tx_end : 35664900
Exon_count : 3
Overlapped_tx_length : 15237
Overlapped_CDS_length : 2799
Overlapped_CDS_percent : 99
Frameshift : no
Dist_nearest_SS : 640
Nearest_SS_type : 5'
Intersect_start : 35648924
Intersect_end : 35664161
607179; OMIM_ID : 607179;
OMIM_phenotype : (Schizophrenia 19, susceptibility to), 617629 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28599
splitAnnotation_mode : split
CPNE1Gene_name : CPNE1;
LOEUF_bin : 6
GnomAD_pLI : 1.7292e-14
ExAC_pLI : 3.8710e-07
HI : .
TS : .
DDD_HI_percent : 31.02
ACMG : .
ExAC_cnvZ : -1.74880955339683
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.0224675137589206
ExAC_synZ : 0.497981592999118
ExAC_misZ : 0.0619532546152601
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8904
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_003915
Tx_version : 6
Tx_start : 35626043
Tx_end : 35653909
Exon_count : 16
Overlapped_tx_length : 18347
Overlapped_CDS_length : 15
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2639
Nearest_SS_type : 3'
Intersect_start : 35635562
Intersect_end : 35653909
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 21570
Gene_count : 2
fullAnnotation_mode : full
C20orf173; ERGIC3; [...2genes]Gene_name : C20orf173; ERGIC3;
LOEUF_bin : 4
GnomAD_pLI : 2.2416e-05
ExAC_pLI : 3.8591e-03
HI : .
TS : .
DDD_HI_percent : 90.45
ExAC_cnvZ : -0.754597917507887
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.37434719683734
ExAC_synZ : 0.688530072870984
ExAC_misZ : 2.22740356986199
Closest_left : CEP250-AS1
Closest_right : FER1L4
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=[...]RE_gene : PIGU (morbid/RE=EA_enhancer); GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.14; 0.70; 0.64; 0.17; 4.70
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35539312-35539335 HPRC:pbsv.DEL.2789
po_B_loss_someG_coord : chr20:35539287-35539335 HPRC:pbsv.DEL.2788
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35526345-35526650; 20:35526653-35526945
Repeat_type_left : AluJr; L1MEd
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35548025-35548166; 20:35548196-35548318
Repeat_type_right : L1MB4; FLAM_C
Gap_right : .
GC_content_right : 0.455
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 21570
splitAnnotation_mode : split
ERGIC3Gene_name : ERGIC3;
LOEUF_bin : 4
GnomAD_pLI : 2.2416e-05
ExAC_pLI : 3.8591e-03
HI : .
TS : .
DDD_HI_percent : 32.69
ACMG : .
ExAC_cnvZ : -0.754597917507887
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.37434719683734
ExAC_synZ : 0.688530072870984
ExAC_misZ : 2.22740356986199
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51614
txStart-intron5Location : txStart-intron5
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_015966
Tx_version : 3
Tx_start : 35542077
Tx_end : 35557634
Exon_count : 13
Overlapped_tx_length : 6095
Overlapped_CDS_length : 461
Overlapped_CDS_percent : 40
Frameshift : yes
Dist_nearest_SS : 336
Nearest_SS_type : 3'
Intersect_start : 35542077
Intersect_end : 35548172
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 21570
splitAnnotation_mode : split
C20orf173Gene_name : C20orf173;
LOEUF_bin : 7
GnomAD_pLI : 1.0938e-06
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 90.45
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140873
txStart-intron6Location : txStart-intron6
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : XM_047439904
Tx_version : 1
Tx_start : 35520806
Tx_end : 35529652
Exon_count : 12
Overlapped_tx_length : 3050
Overlapped_CDS_length : 609
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : 443
Nearest_SS_type : 5'
Intersect_start : 35526602
Intersect_end : 35529652
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 13516
Gene_count : 2
fullAnnotation_mode : full
BPIFA1; LOC105372593; [...2genes]Gene_name : BPIFA1; LOC105372593;
LOEUF_bin : 8
GnomAD_pLI : 1.1971e-08
ExAC_pLI : 3.6015e-05
HI : .
TS : .
DDD_HI_percent : 88.4
ExAC_cnvZ : -1.91417061298326
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.394454859485159
ExAC_synZ : -0.855825031903058
ExAC_misZ : -1.43409551047864
Closest_left : BPIFA3
Closest_right : BPIFB1
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.09; 0.44
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33243906-33243958 dbVar
po_B_loss_someG_coord : chr20:33231502-33233225 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33231364-33231659; 20:33231749-33231858
Repeat_type_left : AluJb; MIRc
Gap_left : .
GC_content_left : 0.510
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33245149-33245487
Repeat_type_right : AluJo
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13516
splitAnnotation_mode : split
BPIFA1Gene_name : BPIFA1;
LOEUF_bin : 8
GnomAD_pLI : 1.1971e-08
ExAC_pLI : 3.6015e-05
HI : .
TS : .
DDD_HI_percent : 88.4
ACMG : .
ExAC_cnvZ : -1.91417061298326
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.394454859485159
ExAC_synZ : -0.855825031903058
ExAC_misZ : -1.43409551047864
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51297
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001243193
Tx_version : 2
Tx_start : 33235995
Tx_end : 33243306
Exon_count : 9
Overlapped_tx_length : 7311
Overlapped_CDS_length : 771
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 33235995
Intersect_end : 33243306
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13516
splitAnnotation_mode : split
LOC105372593Gene_name : LOC105372593;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-txEndLocation : intron1-txEnd
CytoBand : q11.21
Location2 : UTR
Tx : XR_936683
Tx_version : 2
Tx_start : 33242547
Tx_end : 33257496
Exon_count : 3
Overlapped_tx_length : 2685
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1747
Nearest_SS_type : 3'
Intersect_start : 33242547
Intersect_end : 33245232
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 42738
Gene_count : 2
fullAnnotation_mode : full
BPIFB3; BPIFB4; [...2genes]Gene_name : BPIFB3; BPIFB4;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 72.06
ExAC_cnvZ : -1.5926808300207
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.247525500012051
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.676082883446531
Closest_left : BPIFB6
Closest_right : LOC105372714
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
DNMT3B (morbid/RE=EA_enhancer); RE_gene : DNMT3B (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.28; 1.38
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33064626-33075377 dbVar; chr20:33086422-33086475 dbVar;
po_B_loss_someG_coord : chr20:33052542-33052566 HPRC:pbsv.DEL.2623; chr20:33074267-33077556 dbVar; chr20:33086566-33087384 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33049585-33049710
Repeat_type_left : MIRc
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.555
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 42738
splitAnnotation_mode : split
BPIFB4Gene_name : BPIFB4;
LOEUF_bin : 7
GnomAD_pLI : 4.6976e-21
ExAC_pLI : 3.4659e-17
HI : .
TS : .
DDD_HI_percent : 69.82
ACMG : .
ExAC_cnvZ : -1.76721570748308
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.423619863791745
ExAC_synZ : -0.579456501887006
ExAC_misZ : -1.19098729274072
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 149954
txStart-intron10Location : txStart-intron10
CytoBand : q11.21
Location2 : 5'UTR-CDS
Tx : NM_182519
Tx_version : 3
Tx_start : 33079642
Tx_end : 33111751
Exon_count : 18
Overlapped_tx_length : 12742
Overlapped_CDS_length : 1143
Overlapped_CDS_percent : 61
Frameshift : no
Dist_nearest_SS : 73
Nearest_SS_type : 3'
Intersect_start : 33079642
Intersect_end : 33092384
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 42738
splitAnnotation_mode : split
BPIFB3Gene_name : BPIFB3;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 72.06
ACMG : .
ExAC_cnvZ : -1.5926808300207
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.247525500012051
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.676082883446531
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 359710
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001376932
Tx_version : 3
Tx_start : 33053902
Tx_end : 33073847
Exon_count : 16
Overlapped_tx_length : 19945
Overlapped_CDS_length : 1419
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 33053902
Intersect_end : 33073847
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 23747
Gene_count : 2
fullAnnotation_mode : full
DEFB121; DEFB122; [...2genes]Gene_name : DEFB121; DEFB122;
LOEUF_bin : 9
GnomAD_pLI : 9.6502e-02
ExAC_pLI : 3.1538e-02
HI : .
TS : .
DDD_HI_percent : 95.35
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.137729968293333
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -1.79680771224525
ExAC_misZ : -0.364963039363491
Closest_left : DEFB119
Closest_right : DEFB123
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:31426382-31426444 dbVar
po_B_loss_someG_coord : chr20:31418230-31418284 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:31413420-31413795
Repeat_type_left : MLT1I
Gap_left : .
GC_content_left : 0.465
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:31436885-31437135; 20:31437246-31437543
Repeat_type_right : L2a; AluSz6
Gap_right : .
GC_content_right : 0.450
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 23747
splitAnnotation_mode : split
DEFB121Gene_name : DEFB121;
LOEUF_bin : 9
GnomAD_pLI : 9.6502e-02
ExAC_pLI : 3.1538e-02
HI : .
TS : .
DDD_HI_percent : 95.35
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -0.137729968293333
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -1.79680771224525
ExAC_misZ : -0.364963039363491
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 245934
txStart-intron1Location : txStart-intron1
CytoBand : q11.21
Location2 : 5'UTR
Tx : XM_005260383
Tx_version : 3
Tx_start : 31404844
Tx_end : 31418522
Exon_count : 4
Overlapped_tx_length : 5043
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 308
Nearest_SS_type : 3'
Intersect_start : 31413479
Intersect_end : 31418522
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 23747
splitAnnotation_mode : split
DEFB122Gene_name : DEFB122;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 245935
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.21
Location2 : UTR
Tx : NR_045677
Tx_version : 1
Tx_start : 31421438
Tx_end : 31429180
Exon_count : 3
Overlapped_tx_length : 7742
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 31421438
Intersect_end : 31429180
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 43101
Gene_count : 2
fullAnnotation_mode : full
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LINC00851
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.32; 1.18
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:18435052-18435114 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18392818-18393338
Repeat_type_left : HAL1ME
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18435833-18436309
Repeat_type_right : L1M4a2
Gap_right : .
GC_content_right : 0.315
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 43101
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron1-intron10Location : intron1-intron10
CytoBand : p11.23
Location2 : CDS
Tx : XM_017027921
Tx_version : 3
Tx_start : 18383366
Tx_end : 18442927
Exon_count : 14
Overlapped_tx_length : 43101
Overlapped_CDS_length : 1080
Overlapped_CDS_percent : 70
Frameshift : no
Dist_nearest_SS : 672
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18436139
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 43101
splitAnnotation_mode : split
LOC124904877Gene_name : LOC124904877;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-txEndLocation : intron1-txEnd
CytoBand : p11.23
Location2 : UTR
Tx : XR_007067546
Tx_version : 1
Tx_start : 18389823
Tx_end : 18400109
Exon_count : 2
Overlapped_tx_length : 7071
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3020
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18400109
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3181
Gene_count : 2
fullAnnotation_mode : full
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LINC00851
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.02; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18392818-18393338
Repeat_type_left : HAL1ME
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.360
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3181
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron7-intron9Location : intron7-intron9
CytoBand : p11.23
Location2 : CDS
Tx : XM_011529277
Tx_version : 3
Tx_start : 18383366
Tx_end : 18432929
Exon_count : 13
Overlapped_tx_length : 3181
Overlapped_CDS_length : 198
Overlapped_CDS_percent : 15
Frameshift : no
Dist_nearest_SS : 252
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18396219
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3181
splitAnnotation_mode : split
LOC124904877Gene_name : LOC124904877;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : p11.23
Location2 : UTR
Tx : XR_007067546
Tx_version : 1
Tx_start : 18389823
Tx_end : 18400109
Exon_count : 2
Overlapped_tx_length : 3181
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3020
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18396219
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2202
Gene_count : 2
fullAnnotation_mode : full
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LINC00851
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.02; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18392818-18393338
Repeat_type_left : HAL1ME
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18395082-18395380
Repeat_type_right : AluSz6
Gap_right : .
GC_content_right : 0.530
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2202
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron7-intron9Location : intron7-intron9
CytoBand : p11.23
Location2 : CDS
Tx : XM_011529277
Tx_version : 3
Tx_start : 18383366
Tx_end : 18432929
Exon_count : 13
Overlapped_tx_length : 2202
Overlapped_CDS_length : 198
Overlapped_CDS_percent : 15
Frameshift : no
Dist_nearest_SS : 672
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18395240
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2202
splitAnnotation_mode : split
LOC124904877Gene_name : LOC124904877;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : p11.23
Location2 : UTR
Tx : XR_007067546
Tx_version : 1
Tx_start : 18389823
Tx_end : 18400109
Exon_count : 2
Overlapped_tx_length : 2202
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3020
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18395240
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 2
fullAnnotation_mode : full
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LINC00851
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18392818-18393338
Repeat_type_left : HAL1ME
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18393368-18393655
Repeat_type_right : HAL1ME
Gap_right : .
GC_content_right : 0.360
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron9-intron9Location : intron9-intron9
CytoBand : p11.23
Location2 : CDS
Tx : XM_011529277
Tx_version : 3
Tx_start : 18383366
Tx_end : 18432929
Exon_count : 13
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 172
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18393538
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
LOC124904877Gene_name : LOC124904877;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : p11.23
Location2 : UTR
Tx : XR_007067546
Tx_version : 1
Tx_start : 18389823
Tx_end : 18400109
Exon_count : 2
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3020
Nearest_SS_type : 5'
Intersect_start : 18393038
Intersect_end : 18393538
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3438
Gene_count : 2
fullAnnotation_mode : full
SNAP25-AS1; ANKEF1; [...2genes]Gene_name : SNAP25-AS1; ANKEF1;
LOEUF_bin : 5
GnomAD_pLI : 8.5371e-10
ExAC_pLI : 2.7519e-09
HI : .
TS : .
DDD_HI_percent : 58.59
ExAC_cnvZ : 0.361273203203079
ExAC_delZ : 0.229931534382449
ExAC_dupZ : 0.301691348625178
ExAC_synZ : -0.213721382062144
ExAC_misZ : 0.223656990656899
Closest_left : PARAL1
Closest_right : LOC105372524
.Location : .
CytoBand : p12.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; dbVar:nssv15147284
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9550976-12083434
po_P_loss_percent : 0.02; 0.04; 0.04; 0.05; 0.10; 0.03; 0.14
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:10031499-10032925
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.710
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:10035517-10035756
Repeat_type_right : MIR
Gap_right : .
GC_content_right : 0.410
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3438
splitAnnotation_mode : split
ANKEF1Gene_name : ANKEF1;
LOEUF_bin : 5
GnomAD_pLI : 8.5371e-10
ExAC_pLI : 2.7519e-09
HI : .
TS : .
DDD_HI_percent : 58.59
ACMG : .
ExAC_cnvZ : 0.361273203203079
ExAC_delZ : 0.229931534382449
ExAC_dupZ : 0.301691348625178
ExAC_synZ : -0.213721382062144
ExAC_misZ : 0.223656990656899
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 63926
txStart-intron1Location : txStart-intron1
CytoBand : p12.2
Location2 : 5'UTR
Tx : NM_001303472
Tx_version : 2
Tx_start : 10034986
Tx_end : 10058303
Exon_count : 11
Overlapped_tx_length : 511
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 164
Nearest_SS_type : 5'
Intersect_start : 10034986
Intersect_end : 10035497
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3438
splitAnnotation_mode : split
SNAP25-AS1Gene_name : SNAP25-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100131208
intron3-intron3Location : intron3-intron3
CytoBand : p12.2
Location2 : UTR
Tx : NR_040710
Tx_version : 1
Tx_start : 10023811
Tx_end : 10219506
Exon_count : 5
Overlapped_tx_length : 3438
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5411
Nearest_SS_type : 3'
Intersect_start : 10032059
Intersect_end : 10035497
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5640
Gene_count : 2
fullAnnotation_mode : full
TRMT6; MCM8; [...2genes]Gene_name : TRMT6; MCM8;
LOEUF_bin : 4
GnomAD_pLI : 2.4031e-05
ExAC_pLI : 4.9253e-04
HI : .
TS : .
DDD_HI_percent : 32.62
ExAC_cnvZ : 1.01754506009196
ExAC_delZ : 0.650584181385956
ExAC_dupZ : 0.973808958628458
ExAC_synZ : -0.868768220033901
ExAC_misZ : 0.968408915204078
Closest_left : CHGB
Closest_right : MCM8-AS1
.Location : .
CytoBand : p12.3
608187; OMIM_ID : 608187;
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370
po_P_loss_percent : 0.10; 0.04; 0.07; 0.22; 0.07; 4.90
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5947774-5947980
Repeat_type_left : AluJb
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:5953439-5953471; 20:5953477-5953772
Repeat_type_right : (GT)n; AluY
Gap_right : .
GC_content_right : 0.460
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5640
splitAnnotation_mode : split
TRMT6Gene_name : TRMT6;
LOEUF_bin : 4
GnomAD_pLI : 2.4031e-05
ExAC_pLI : 4.9253e-04
HI : .
TS : .
DDD_HI_percent : 32.62
ACMG : .
ExAC_cnvZ : 1.01754506009196
ExAC_delZ : 0.650584181385956
ExAC_dupZ : 0.973808958628458
ExAC_synZ : -0.868768220033901
ExAC_misZ : 0.968408915204078
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51605
txStart-intron1Location : txStart-intron1
CytoBand : p12.3
Location2 : 5'UTR-CDS
Tx : NM_015939
Tx_version : 5
Tx_start : 5937227
Tx_end : 5950533
Exon_count : 11
Overlapped_tx_length : 2703
Overlapped_CDS_length : 128
Overlapped_CDS_percent : 8
Frameshift : yes
Dist_nearest_SS : 1297
Nearest_SS_type : 3'
Intersect_start : 5947830
Intersect_end : 5950533
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5640
splitAnnotation_mode : split
MCM8Gene_name : MCM8;
LOEUF_bin : 5
GnomAD_pLI : 1.0536e-16
ExAC_pLI : 1.9289e-10
HI : .
TS : .
DDD_HI_percent : 0.31
ACMG : .
ExAC_cnvZ : 0.670689793926319
ExAC_delZ : 0.0652954789617851
ExAC_dupZ : 0.894892763763837
ExAC_synZ : -0.951232916035886
ExAC_misZ : -0.0604974802456897
GenCC_disease : premature ovarian failure 10
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289
NCBI_gene_ID : 84515
txStart-intron3Location : txStart-intron3
CytoBand : p12.3
Location2 : 5'UTR-CDS
Tx : XM_047440554
Tx_version : 1
Tx_start : 5950651
Tx_end : 5977967
Exon_count : 14
Overlapped_tx_length : 2819
Overlapped_CDS_length : 253
Overlapped_CDS_percent : 17
Frameshift : yes
Dist_nearest_SS : 942
Nearest_SS_type : 5'
Intersect_start : 5950651
Intersect_end : 5953470
608187; OMIM_ID : 608187;
OMIM_phenotype : ?Premature ovarian failure 10, 612885 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 15161
Gene_count : 2
fullAnnotation_mode : full
CHGB; TRMT6; [...2genes]Gene_name : CHGB; TRMT6;
LOEUF_bin : 4
GnomAD_pLI : 2.4031e-05
ExAC_pLI : 4.9253e-04
HI : .
TS : .
DDD_HI_percent : 72.37
ExAC_cnvZ : 1.01754506009196
ExAC_delZ : 0.650584181385956
ExAC_dupZ : 0.973808958628458
ExAC_synZ : -0.497922486404799
ExAC_misZ : 0.968408915204078
Closest_left : SHLD1
Closest_right : MCM8
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370
po_P_loss_percent : 0.26; 0.11; 0.17; 0.59; 0.18; 13.18
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:5930628-5930652 HPRC:pbsv.DEL.590
po_B_loss_someG_coord : chr20:5926097-5926119 HPRC:pbsv.DEL.588
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5924309-5924471
Repeat_type_left : MER5B
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.460
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 15161
splitAnnotation_mode : split
CHGBGene_name : CHGB;
LOEUF_bin : 4
GnomAD_pLI : 2.3622e-07
ExAC_pLI : 3.8164e-07
HI : .
TS : .
DDD_HI_percent : 72.37
ACMG : .
ExAC_cnvZ : 0.338652320699006
ExAC_delZ : 0.214607002761655
ExAC_dupZ : 0.204801876710487
ExAC_synZ : -0.497922486404799
ExAC_misZ : -0.874076392144116
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1114
intron4-txEndLocation : intron4-txEnd
CytoBand : p12.3
Location2 : CDS-3'UTR
Tx : NM_001819
Tx_version : 3
Tx_start : 5911509
Tx_end : 5925353
Exon_count : 5
Overlapped_tx_length : 892
Overlapped_CDS_length : 78
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 361
Nearest_SS_type : 5'
Intersect_start : 5924461
Intersect_end : 5925353
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 15161
splitAnnotation_mode : split
TRMT6Gene_name : TRMT6;
LOEUF_bin : 4
GnomAD_pLI : 2.4031e-05
ExAC_pLI : 4.9253e-04
HI : .
TS : .
DDD_HI_percent : 32.62
ACMG : .
ExAC_cnvZ : 1.01754506009196
ExAC_delZ : 0.650584181385956
ExAC_dupZ : 0.973808958628458
ExAC_synZ : -0.868768220033901
ExAC_misZ : 0.968408915204078
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51605
intron9-txEndLocation : intron9-txEnd
CytoBand : p12.3
Location2 : CDS-3'UTR
Tx : NM_001281467
Tx_version : 2
Tx_start : 5937227
Tx_end : 5950533
Exon_count : 10
Overlapped_tx_length : 2395
Overlapped_CDS_length : 192
Overlapped_CDS_percent : 19
Frameshift : no
Dist_nearest_SS : 896
Nearest_SS_type : 3'
Intersect_start : 5937227
Intersect_end : 5939622
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 15687
Gene_count : 2
fullAnnotation_mode : full
NSFL1C; SIRPB2; [...2genes]Gene_name : NSFL1C; SIRPB2;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 87.76
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
Closest_left : LOC105372497
Closest_right : LOC105372499
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.99; 0.91; 0.89; 0.80; 0.71; 1.12; 0.93; 0.89; 0.85; 0.76; 0.72; 0.80
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.405
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.575
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 15687
splitAnnotation_mode : split
NSFL1CGene_name : NSFL1C;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 32.36
ACMG : .
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55968
txStart-intron4Location : txStart-intron4
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_011529300
Tx_version : 3
Tx_start : 1442165
Tx_end : 1466849
Exon_count : 11
Overlapped_tx_length : 10367
Overlapped_CDS_length : 287
Overlapped_CDS_percent : 25
Frameshift : yes
Dist_nearest_SS : 763
Nearest_SS_type : 3'
Intersect_start : 1456482
Intersect_end : 1466849
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 15687
splitAnnotation_mode : split
SIRPB2Gene_name : SIRPB2;
LOEUF_bin : 6
GnomAD_pLI : 3.6633e-04
ExAC_pLI : 1.4588e-02
HI : .
TS : .
DDD_HI_percent : 87.76
ACMG : .
ExAC_cnvZ : 0.0777203923105254
ExAC_delZ : 0.447750423492543
ExAC_dupZ : -0.179261984671716
ExAC_synZ : -0.691939623635092
ExAC_misZ : -0.469394932656968
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 284759
intron7-txEndLocation : intron7-txEnd
CytoBand : p13
Location2 : UTR
Tx : XR_007067453
Tx_version : 1
Tx_start : 1470684
Tx_end : 1491420
Exon_count : 8
Overlapped_tx_length : 1485
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 545
Nearest_SS_type : 5'
Intersect_start : 1470684
Intersect_end : 1472169
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5216
Gene_count : 1
fullAnnotation_mode : full
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
Closest_left : LOC105372704
Closest_right : MIR3195
.Location : .
CytoBand : q13.33
601796; OMIM_ID : 601796;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD
po_P_loss_hpo : .
po_P_loss_source : morbid:TAF4
po_P_loss_coord : 20:61974798-62065881
po_P_loss_percent : 5.73
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62049838-62049890 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.690
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5216
splitAnnotation_mode : split
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ACMG : .
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6874
intron2-intron2Location : intron2-intron2
CytoBand : q13.33
Location2 : CDS
Tx : XM_047440429
Tx_version : 1
Tx_start : 61974797
Tx_end : 62065863
Exon_count : 16
Overlapped_tx_length : 5216
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 13230
Nearest_SS_type : 5'
Intersect_start : 62046004
Intersect_end : 62051220
601796; OMIM_ID : 601796;
OMIM_phenotype : Intellectual developmental disorder, AD 73, 620450 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 24712
Gene_count : 1
fullAnnotation_mode : full
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
Closest_left : MIR1257
Closest_right : LOC105372704
.Location : .
CytoBand : q13.33
601796; OMIM_ID : 601796;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AD 73, 620450 (3) AD
po_P_loss_hpo : .
po_P_loss_source : morbid:TAF4
po_P_loss_coord : 20:61974798-62065881
po_P_loss_percent : 7.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:61941788-61959104 dbVar; chr20:61969883-61969970 dbVar; 20:61970836-61971332 CMRI:1_pbsv.DEL.830_duplicate9; chr20:61970871-61970933 HPRC:pbsv.DEL.4999; 20:61971023-61971519 CMRI:29_pbsv.DEL.1674_duplicate4; chr20:61978043-61978108 dbVar; chr20:61978201-61978263 HPRC:pbsv.DEL.5006
po_B_loss_someG_coord : chr20:61939719-61962534 dbVar; chr20:61966679-61966709 HPRC:pbsv.DEL.4993; chr20:61970036-61972750 dbVar; 20:61970871-61970933 CMRI:2_pbsv.DEL.1167_duplicate9; chr20:61970905-61970966 dbVar; chr20:61977040-61977073 HPRC:pbsv.DEL.5005; 20:61978150-61978206 CMRI:26_pbsv.DEL.775_duplicate7
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:61956383-61956961
Repeat_type_left : LTR61
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:61980879-61981683
Repeat_type_right : L1MC4
Gap_right : .
GC_content_right : 0.515
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 24712
splitAnnotation_mode : split
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ACMG : .
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6874
intron15-txEndLocation : intron15-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : XM_047440429
Tx_version : 1
Tx_start : 61974797
Tx_end : 62065863
Exon_count : 16
Overlapped_tx_length : 6456
Overlapped_CDS_length : 168
Overlapped_CDS_percent : 7
Frameshift : no
Dist_nearest_SS : 4918
Nearest_SS_type : 3'
Intersect_start : 61974797
Intersect_end : 61981253
601796; OMIM_ID : 601796;
OMIM_phenotype : Intellectual developmental disorder, AD 73, 620450 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.2
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1331
Gene_count : 1
fullAnnotation_mode : full
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 0.05; 2.15
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.450
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1331
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron4-intron5Location : intron4-intron5
CytoBand : q13.32
Location2 : CDS
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 1331
Overlapped_CDS_length : 177
Overlapped_CDS_percent : 24
Frameshift : no
Dist_nearest_SS : 343
Nearest_SS_type : 3'
Intersect_start : 58440563
Intersect_end : 58441894
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.2
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 935
Gene_count : 1
fullAnnotation_mode : full
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 0.04; 1.51
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58441360-58441660
Repeat_type_right : AluSx3
Gap_right : .
GC_content_right : 0.540
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 935
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron4-intron5Location : intron4-intron5
CytoBand : q13.32
Location2 : CDS
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 935
Overlapped_CDS_length : 177
Overlapped_CDS_percent : 24
Frameshift : no
Dist_nearest_SS : 343
Nearest_SS_type : 3'
Intersect_start : 58440563
Intersect_end : 58441498
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.2
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 570
Gene_count : 1
fullAnnotation_mode : full
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
STX16 (morbid/RE=EA_enhancer); GNAS (HI=3/mor[...]RE_gene : STX16 (morbid/RE=EA_enhancer); GNAS (HI=3/morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 0.02; 0.92
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58441202-58441287
Repeat_type_right : Charlie24
Gap_right : .
GC_content_right : 0.415
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 570
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron4-intron5Location : intron4-intron5
CytoBand : q13.32
Location2 : CDS
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 570
Overlapped_CDS_length : 177
Overlapped_CDS_percent : 24
Frameshift : no
Dist_nearest_SS : 50
Nearest_SS_type : 5'
Intersect_start : 58440563
Intersect_end : 58441133
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.2
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1307
Gene_count : 1
fullAnnotation_mode : full
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 0.05; 2.11
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58440122-58440255
Repeat_type_left : MIR3
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58441360-58441660
Repeat_type_right : AluSx3
Gap_right : .
GC_content_right : 0.540
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1307
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron4-intron5Location : intron4-intron5
CytoBand : q13.32
Location2 : CDS
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 1307
Overlapped_CDS_length : 177
Overlapped_CDS_percent : 24
Frameshift : no
Dist_nearest_SS : 415
Nearest_SS_type : 5'
Intersect_start : 58440191
Intersect_end : 58441498
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.2
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-4 (VAPB), +0.20: Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND no established pathogenic snv/indel have been reported in the observed CNV AND variant removes > 10% of protein
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1908
Gene_count : 1
fullAnnotation_mode : full
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Amyotrophic lateral sclerosis 8, 608627 (3) AD; Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248; morbid:VAPB
po_P_loss_coord : 20:56717150-59291310; 20:58389229-58451101
po_P_loss_percent : 0.07; 3.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.335
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1908
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron3-intron4Location : intron3-intron4
CytoBand : q13.32
Location2 : CDS
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 1908
Overlapped_CDS_length : 81
Overlapped_CDS_percent : 11
Frameshift : no
Dist_nearest_SS : 69
Nearest_SS_type : 3'
Intersect_start : 58438875
Intersect_end : 58440783
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 688
Gene_count : 1
fullAnnotation_mode : full
PTGISGene_name : PTGIS;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
Closest_left : KCNB1
Closest_right : LOC101927486
.Location : .
CytoBand : q13.13
601699; OMIM_ID : 601699;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer); KCNB1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Hypertension, essential, 145500 (3) Multifactorial
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226; morbid:PTGIS
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110; 20:49524851-49568137
po_P_loss_percent : 0.01; 0.02; 0.03; 0.03; 1.59
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49534478-49562489 dbVar
po_B_loss_someG_coord : chr20:49534334-49562349 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49561923-49562166
Repeat_type_left : MIR
Gap_left : .
GC_content_left : 0.470
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.595
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 688
splitAnnotation_mode : split
PTGISGene_name : PTGIS;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
GenCC_disease : essential hypertension, genetic
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 12372404; 31453292; 32236489; 9217767
NCBI_gene_ID : 5740
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : CDS
Tx : NM_000961
Tx_version : 4
Tx_start : 49503873
Tx_end : 49568137
Exon_count : 10
Overlapped_tx_length : 688
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5332
Nearest_SS_type : 5'
Intersect_start : 49562022
Intersect_end : 49562710
601699; OMIM_ID : 601699;
OMIM_phenotype : Hypertension, essential, 145500 (3) Multifactorial;
OMIM_inheritance : Multifactorial
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.45
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-2 (IFT52, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 15720
Gene_count : 1
fullAnnotation_mode : full
IFT52Gene_name : IFT52;
LOEUF_bin : 4
GnomAD_pLI : 2.0125e-06
ExAC_pLI : 1.6303e-04
HI : .
TS : .
DDD_HI_percent : 21.64
ExAC_cnvZ : -0.957267223159506
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.811247970413386
ExAC_synZ : -0.383710239968146
ExAC_misZ : 0.0585741056901821
Closest_left : SGK2
Closest_right : LOC124904906
.Location : .
CytoBand : q13.12
617094; OMIM_ID : 617094;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:IFT52; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43590937-43647299; 20:43594700-46010118
po_P_loss_percent : 0.10; 0.13; 0.13; 27.89; 0.65
1P_snvindel_nb : 1
P_snvindel_phen : Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:43606216-43606723 dbVar; chr20:43614510-43614567 dbVar
po_B_loss_someG_coord : chr20:43600387-43602268 dbVar; chr20:43607189-43607238 HPRC:pbsv.DEL.3310
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43600300-43600574
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.565
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43616225-43616526
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 15720
splitAnnotation_mode : split
IFT52Gene_name : IFT52;
LOEUF_bin : 4
GnomAD_pLI : 2.0125e-06
ExAC_pLI : 1.6303e-04
HI : .
TS : .
DDD_HI_percent : 21.64
ACMG : .
ExAC_cnvZ : -0.957267223159506
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.811247970413386
ExAC_synZ : -0.383710239968146
ExAC_misZ : 0.0585741056901821
GenCC_disease : cranioectodermal dysplasia; short-rib thoracic dysplasia 16 with or without polydactyly
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 15182712; 15930098; 26880018; 26880018[PMID]_27466190[PMID]; 27466190; 30242358; 31042281
NCBI_gene_ID : 51098
intron3-intron7Location : intron3-intron7
CytoBand : q13.12
Location2 : CDS
Tx : NM_001303458
Tx_version : 3
Tx_start : 43590936
Tx_end : 43647299
Exon_count : 14
Overlapped_tx_length : 15720
Overlapped_CDS_length : 405
Overlapped_CDS_percent : 30
Frameshift : no
Dist_nearest_SS : 2211
Nearest_SS_type : 5'
Intersect_start : 43600467
Intersect_end : 43616187
617094; OMIM_ID : 617094;
OMIM_phenotype : Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (TOP1, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
TOP1Gene_name : TOP1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 1.64
ExAC_cnvZ : -1.41151623617141
ExAC_delZ : -2.41588703402856
ExAC_dupZ : -0.836816505234408
ExAC_synZ : 0.425865658646613
ExAC_misZ : 4.70150687382943
Closest_left : LOC105372621
Closest_right : PLCG1-AS1
.Location : .
CytoBand : q12
126420; OMIM_ID : 126420;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : DNA topoisomerase I, camptothecin-resistant (3)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; morbid:TOP1
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:41028822-41124487
po_P_loss_percent : 0.00; 0.00; 0.00; 0.52
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:41077092-41077219
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.460
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
TOP1Gene_name : TOP1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 1.64
ACMG : .
ExAC_cnvZ : -1.41151623617141
ExAC_delZ : -2.41588703402856
ExAC_dupZ : -0.836816505234408
ExAC_synZ : 0.425865658646613
ExAC_misZ : 4.70150687382943
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 7150
intron4-intron4Location : intron4-intron4
CytoBand : q12
Location2 : CDS
Tx : NM_003286
Tx_version : 4
Tx_start : 41028821
Tx_end : 41124487
Exon_count : 21
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 314
Nearest_SS_type : 5'
Intersect_start : 41076608
Intersect_end : 41077108
126420; OMIM_ID : 126420;
OMIM_phenotype : DNA topoisomerase I, camptothecin-resistant (3);
OMIM_inheritance : .
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 371
Gene_count : 1
fullAnnotation_mode : full
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
Closest_left : RBM12
Closest_right : ROMO1
.Location : .
CytoBand : q11.22
603485; OMIM_ID : 603485;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352
po_P_loss_percent : 0.00; 0.01; 0.01; 0.00; 0.08; 1.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.415
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35695760-35696055
Repeat_type_right : AluSc
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 371
splitAnnotation_mode : split
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ACMG : .
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206
NCBI_gene_ID : 9054
intron4-intron4Location : intron4-intron4
CytoBand : q11.22
Location2 : CDS
Tx : NM_001198989
Tx_version : 2
Tx_start : 35668051
Tx_end : 35699352
Exon_count : 12
Overlapped_tx_length : 371
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 426
Nearest_SS_type : 5'
Intersect_start : 35695579
Intersect_end : 35695950
603485; OMIM_ID : 603485;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
Closest_left : RBM12
Closest_right : ROMO1
.Location : .
CytoBand : q11.22
603485; OMIM_ID : 603485;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352
po_P_loss_percent : 0.00; 0.02; 0.01; 0.00; 0.11; 1.60
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35693547-35693681
Repeat_type_left : AluJo
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35693682-35693982; 20:35693983-35694143; 20:35694144-35694443
Repeat_type_right : AluY; AluJo; AluSq2
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ACMG : .
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206
NCBI_gene_ID : 9054
intron4-intron4Location : intron4-intron4
CytoBand : q11.22
Location2 : CDS
Tx : NM_001198989
Tx_version : 2
Tx_start : 35668051
Tx_end : 35699352
Exon_count : 12
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2301
Nearest_SS_type : 5'
Intersect_start : 35693575
Intersect_end : 35694075
603485; OMIM_ID : 603485;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 599
Gene_count : 1
fullAnnotation_mode : full
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
Closest_left : RBM12
Closest_right : ROMO1
.Location : .
CytoBand : q11.22
603485; OMIM_ID : 603485;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:NFS1
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35668052-35699352
po_P_loss_percent : 0.00; 0.02; 0.02; 0.00; 0.13; 1.91
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 20:35684384-35685764 IMH; 20:35684621-35685320 IMH
po_B_loss_someG_coord : 20:35684357-35685806 DDD:54726; 20:35684455-35685636 IMH
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35683848-35684123; 20:35684126-35684407
Repeat_type_left : AluSq2; AluY
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35684469-35684778; 20:35684783-35684896; 20:35684897-35685185
Repeat_type_right : AluSx1; AluJo; AluSx
Gap_right : .
GC_content_right : 0.455
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 599
splitAnnotation_mode : split
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ACMG : .
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206
NCBI_gene_ID : 9054
intron4-intron4Location : intron4-intron4
CytoBand : q11.22
Location2 : CDS
Tx : NM_001198989
Tx_version : 2
Tx_start : 35668051
Tx_end : 35699352
Exon_count : 12
Overlapped_tx_length : 599
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2223
Nearest_SS_type : 3'
Intersect_start : 35684204
Intersect_end : 35684803
603485; OMIM_ID : 603485;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2C-2 (GDF5,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2781
Gene_count : 1
fullAnnotation_mode : full
GDF5Gene_name : GDF5;
LOEUF_bin : 2
GnomAD_pLI : 6.7002e-01
ExAC_pLI : 9.2319e-01
HI : 3
TS : .
DDD_HI_percent : 5.52
ExAC_cnvZ : -0.458511700692603
ExAC_delZ : -1.56972452437764
ExAC_dupZ : 0.53153914020515
ExAC_synZ : -0.11979862993338
ExAC_misZ : 2.39058853401816
Closest_left : GDF5-AS1
Closest_right : MIR1289-1
.Location : .
CytoBand : q11.22
601146; OMIM_ID : 601146;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR; Acromesomelic dysplasia 2A, 200700 (3) AR; Acromesomelic dysplasia 2B, 228900 (3) AR; Brachydactyly, type A1, C, 615072 (3) AR,AD; Brachydactyly, type A2, 112600 (3) AD; Brachydactyly, type C, 113100 (3) AD; Multiple synostoses syndrome 2, 610017 (3) AD; Symphalangism, proximal, 1B, 615298 (3) AD; Osteoarthritis-5, 612400 (3)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536; morbid:GDF5; HI3:GDF5
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837; 20:35433347-35454749; 20:35433348-35454749
po_P_loss_percent : 0.02; 0.09; 0.08; 0.02; 0.61; 12.99; 12.99
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35445688-35445999; 20:35446010-35446026; 20:35446027-35446331
Repeat_type_right : AluSp; MIRb; AluSq2
Gap_right : .
GC_content_right : 0.380
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2781
splitAnnotation_mode : split
GDF5Gene_name : GDF5;
LOEUF_bin : 2
GnomAD_pLI : 6.7002e-01
ExAC_pLI : 9.2319e-01
HI : 3
TS : 0
DDD_HI_percent : 5.52
ACMG : .
ExAC_cnvZ : -0.458511700692603
ExAC_delZ : -1.56972452437764
ExAC_dupZ : 0.53153914020515
ExAC_synZ : -0.11979862993338
ExAC_misZ : 2.39058853401816
GenCC_disease : Angel-shaped phalango-epiphyseal dysplasia; acromesomelic dysplasia 2A; acromesomelic dysplasia 2B; acromesomelic dysplasia 2C, Hunter-Thompson type; brachydactyly type A1; brachydactyly type A1C; brachydactyly type A2; brachydactyly type C; multiple synostoses syndrome; proximal symphalangism; proximal symphalangism 1A; symphalangism, proximal, 1B
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 10080184; 11846737; 11857750; 12121354; 12124730; 12357473; 12357473[PMID]; 12567410; 12900894; 15173244[PMID]_22828428[PMID]; 16014698; 16014698[PMID]; 16127465; 16222676; 16222676[PMID]; 16532400; 16532400[PMID]; 16892395; 18283415; 18283415[PMID]_16892395[PMID]; 18629880; 19038017; 20683927[PMID]; 2703235; 27577507; 29371961; 390625; 8145850; 8589725; 8589725[PMID]; 9288091; 9288098; neant
NCBI_gene_ID : 8200
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_001319138
Tx_version : 2
Tx_start : 35433346
Tx_end : 35454749
Exon_count : 4
Overlapped_tx_length : 2781
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1890
Nearest_SS_type : 3'
Intersect_start : 35443277
Intersect_end : 35446058
601146; OMIM_ID : 601146;
OMIM_phenotype : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR;
Acromesomelic dysplasia 2A, 200700 (3) AR;
Acromesomelic dysplasia 2B, 228900 (3) AR;
Brachydactyly, type A1, C, 615072 (3) AR,AD;
Brachydactyly, type A2, 112600 (3) AD;
Brachydactyly, type C, 113100 (3) AD;
Multiple synostoses syndrome 2, 610017 (3) AD;
Symphalangism, proximal, 1B, 615298 (3) AD;
(Osteoarthritis-5), 612400 (3);
OMIM_inheritance : AD; AR; AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2C-2 (AHCY,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 13289
Gene_count : 1
fullAnnotation_mode : full
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : .
TS : .
DDD_HI_percent : 18.88
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
Closest_left : ASIP
Closest_right : ITCH
.Location : .
CytoBand : q11.22
180960; OMIM_ID : 180960;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836
po_P_loss_percent : 0.09; 0.43; 0.39; 23.52
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34304277-34304486
Repeat_type_left : MER2
Gap_left : .
GC_content_left : 0.315
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:34317336-34317603; 20:34317604-34318014
Repeat_type_right : AluSg7; MLT1G3
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13289
splitAnnotation_mode : split
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : 30
TS : 0
DDD_HI_percent : 18.88
ACMG : .
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160
NCBI_gene_ID : 191
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : XM_011528659
Tx_version : 2
Tx_start : 34280267
Tx_end : 34311836
Exon_count : 10
Overlapped_tx_length : 7426
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7407
Nearest_SS_type : 5'
Intersect_start : 34304410
Intersect_end : 34311836
180960; OMIM_ID : 180960;
OMIM_phenotype : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.45
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-2 (AHCY, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4487
Gene_count : 1
fullAnnotation_mode : full
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : .
TS : .
DDD_HI_percent : 18.88
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
Closest_left : ASIP
Closest_right : ITCH
.Location : .
CytoBand : q11.22
180960; OMIM_ID : 180960;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836
po_P_loss_percent : 0.03; 0.14; 0.13; 14.21
2P_snvindel_nb : 2
P_snvindel_phen : Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:34292840-34293905 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34292641-34292815
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.575
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:34297178-34297301; 20:34297302-34297595
Repeat_type_right : L2; AluSg
Gap_right : .
GC_content_right : 0.515
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4487
splitAnnotation_mode : split
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : 30
TS : 0
DDD_HI_percent : 18.88
ACMG : .
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160
NCBI_gene_ID : 191
intron1-intron3Location : intron1-intron3
CytoBand : q11.22
Location2 : CDS
Tx : XM_047439962
Tx_version : 1
Tx_start : 34231980
Tx_end : 34303355
Exon_count : 11
Overlapped_tx_length : 4487
Overlapped_CDS_length : 267
Overlapped_CDS_percent : 20
Frameshift : no
Dist_nearest_SS : 400
Nearest_SS_type : 3'
Intersect_start : 34292907
Intersect_end : 34297394
180960; OMIM_ID : 180960;
OMIM_phenotype : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
2P_snvindel_nb : 2
P_snvindel_phen : Hypermethioninemia_with_deficiency_of_S-adenosylhomocysteine_hydrolase; Inborn_genetic_diseases
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 635
Gene_count : 1
fullAnnotation_mode : full
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : .
TS : .
DDD_HI_percent : 18.88
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
Closest_left : ASIP
Closest_right : ITCH
.Location : .
CytoBand : q11.22
180960; OMIM_ID : 180960;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836
po_P_loss_percent : 0.00; 0.02; 0.02; 2.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34287387-34287691
Repeat_type_left : AluSz
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.530
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 635
splitAnnotation_mode : split
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : 30
TS : 0
DDD_HI_percent : 18.88
ACMG : .
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160
NCBI_gene_ID : 191
intron8-intron8Location : intron8-intron8
CytoBand : q11.22
Location2 : CDS
Tx : XM_047439962
Tx_version : 1
Tx_start : 34231980
Tx_end : 34303355
Exon_count : 11
Overlapped_tx_length : 635
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1666
Nearest_SS_type : 3'
Intersect_start : 34287300
Intersect_end : 34287935
180960; OMIM_ID : 180960;
OMIM_phenotype : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
ASXL1Gene_name : ASXL1;
LOEUF_bin : 4
GnomAD_pLI : 1.2511e-14
ExAC_pLI : 1.3737e-18
HI : 3
TS : .
DDD_HI_percent : 20.78
ExAC_cnvZ : -0.0278344584251809
ExAC_delZ : -1.01940390925011
ExAC_dupZ : 0.677036012909873
ExAC_synZ : 0.207546365889455
ExAC_misZ : 0.0635347224825553
Closest_left : KIF3B
Closest_right : NOL4L
.Location : .
CytoBand : q11.21
612990; OMIM_ID : 612990;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Bohring-Opitz syndrome, 605039 (3) AD; Myelodysplastic syndrome, somatic, 614286 (3)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; HI3:ASXL1; dbVar:nssv15140237
po_P_loss_coord : 20:32236739-47669019; 20:32358332-32439319; 20:32359269-32464974
po_P_loss_percent : 0.00; 0.62; 0.47
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32378846-32379066; 20:32379082-32379099
Repeat_type_left : AluSx1; (CA)n
Gap_left : .
GC_content_left : 0.470
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32379162-32379507; 20:32379544-32379847
Repeat_type_right : AluSz6; AluSx1
Gap_right : .
GC_content_right : 0.540
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
ASXL1Gene_name : ASXL1;
LOEUF_bin : 4
GnomAD_pLI : 1.2511e-14
ExAC_pLI : 1.3737e-18
HI : 3
TS : 0
DDD_HI_percent : 20.78
ACMG : .
ExAC_cnvZ : -0.0278344584251809
ExAC_delZ : -1.01940390925011
ExAC_dupZ : 0.677036012909873
ExAC_synZ : 0.207546365889455
ExAC_misZ : 0.0635347224825553
GenCC_disease : Bohring-Opitz syndrome
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 21706002; 21706002[PMID]; 22419483; 2421814; 24218140; 25921057; 26364555; 27043953; 27237378; 28497657
NCBI_gene_ID : 171023
intron4-intron4Location : intron4-intron4
CytoBand : q11.21
Location2 : CDS
Tx : NM_015338
Tx_version : 6
Tx_start : 32358330
Tx_end : 32439319
Exon_count : 13
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 9919
Nearest_SS_type : 5'
Intersect_start : 32379042
Intersect_end : 32379542
612990; OMIM_ID : 612990;
OMIM_phenotype : Bohring-Opitz syndrome, 605039 (3) AD;
Myelodysplastic syndrome, somatic, 614286 (3);
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
ASXL1Gene_name : ASXL1;
LOEUF_bin : 4
GnomAD_pLI : 1.2511e-14
ExAC_pLI : 1.3737e-18
HI : 3
TS : .
DDD_HI_percent : 20.78
ExAC_cnvZ : -0.0278344584251809
ExAC_delZ : -1.01940390925011
ExAC_dupZ : 0.677036012909873
ExAC_synZ : 0.207546365889455
ExAC_misZ : 0.0635347224825553
Closest_left : KIF3B
Closest_right : NOL4L
.Location : .
CytoBand : q11.21
612990; OMIM_ID : 612990;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Bohring-Opitz syndrome, 605039 (3) AD; Myelodysplastic syndrome, somatic, 614286 (3)
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; HI3:ASXL1; dbVar:nssv15140237
po_P_loss_coord : 20:32236739-47669019; 20:32358332-32439319; 20:32359269-32464974
po_P_loss_percent : 0.01; 1.23; 0.95
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32378320-32378453
Repeat_type_left : Tigger4b
Gap_left : .
GC_content_left : 0.370
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32379162-32379507; 20:32379544-32379847
Repeat_type_right : AluSz6; AluSx1
Gap_right : .
GC_content_right : 0.540
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
ASXL1Gene_name : ASXL1;
LOEUF_bin : 4
GnomAD_pLI : 1.2511e-14
ExAC_pLI : 1.3737e-18
HI : 3
TS : 0
DDD_HI_percent : 20.78
ACMG : .
ExAC_cnvZ : -0.0278344584251809
ExAC_delZ : -1.01940390925011
ExAC_dupZ : 0.677036012909873
ExAC_synZ : 0.207546365889455
ExAC_misZ : 0.0635347224825553
GenCC_disease : Bohring-Opitz syndrome
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 21706002; 21706002[PMID]; 22419483; 2421814; 24218140; 25921057; 26364555; 27043953; 27237378; 28497657
NCBI_gene_ID : 171023
intron4-intron4Location : intron4-intron4
CytoBand : q11.21
Location2 : CDS
Tx : NM_015338
Tx_version : 6
Tx_start : 32358330
Tx_end : 32439319
Exon_count : 13
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 9419
Nearest_SS_type : 5'
Intersect_start : 32378542
Intersect_end : 32379542
612990; OMIM_ID : 612990;
OMIM_phenotype : Bohring-Opitz syndrome, 605039 (3) AD;
Myelodysplastic syndrome, somatic, 614286 (3);
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2C-2 (KIF3B,+0.00): Partial overlap with the 5' end of an established HI gene / morbid gene (3' end of the gene not involved) and only the 5' UTR is involved
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
Closest_left : LOC124904885
Closest_right : ASXL1
.Location : .
CytoBand : q11.21
603754; OMIM_ID : 603754;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Retinitis pigmentosa 89, 618955 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; morbid:KIF3B
po_P_loss_coord : 20:32236739-47669019; 20:32301770-32335011
po_P_loss_percent : 0.00; 1.50
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32307279-32307617; 20:32307687-32307948
Repeat_type_left : L1ME4b; AluYc
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32307963-32308247; 20:32308248-32308396
Repeat_type_right : AluSx1; AluJr
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ACMG : .
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
GenCC_disease : ciliopathy; retinitis pigmentosa 89
GenCC_moi : AD
GenCC_classification : Limited; Moderate; Strong
GenCC_pmid : 32386558
NCBI_gene_ID : 9371
intron1-intron1Location : intron1-intron1
CytoBand : q11.21
Location2 : 5'UTR
Tx : NM_004798
Tx_version : 4
Tx_start : 32277650
Tx_end : 32335011
Exon_count : 9
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1563
Nearest_SS_type : 3'
Intersect_start : 32307649
Intersect_end : 32308149
603754; OMIM_ID : 603754;
OMIM_phenotype : Retinitis pigmentosa 89, 618955 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 126
Gene_count : 1
fullAnnotation_mode : full
ABHD12Gene_name : ABHD12;
LOEUF_bin : 4
GnomAD_pLI : 1.9476e-05
ExAC_pLI : 1.9830e-06
HI : .
TS : .
DDD_HI_percent : 52.8
ExAC_cnvZ : -0.680858476764257
ExAC_delZ : 0.189387474542123
ExAC_dupZ : -1.00068967075933
ExAC_synZ : 0.536489808349598
ExAC_misZ : 0.0636379461450042
Closest_left : PYGB
Closest_right : LOC105372581
.Location : .
CytoBand : p11.21
613599; OMIM_ID : 613599;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664; dbVar:nssv18787417; dbVar:nssv17172861; morbid:ABHD12; dbVar:nssv18787412
po_P_loss_coord : 20:18520274-25866684; 20:25314906-25320338; 20:25314926-25320318; 20:25318346-25390835; 20:25320180-25320338
po_P_loss_percent : 0.00; 2.32; 2.34; 0.17; 36.48
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:25319969-25320139
Repeat_type_left : LTR65
Gap_left : .
GC_content_left : 0.575
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:25319969-25320139
Repeat_type_right : LTR65
Gap_right : .
GC_content_right : 0.565
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 126
splitAnnotation_mode : split
ABHD12Gene_name : ABHD12;
LOEUF_bin : 4
GnomAD_pLI : 1.9476e-05
ExAC_pLI : 1.9830e-06
HI : 30
TS : 0
DDD_HI_percent : 52.8
ACMG : .
ExAC_cnvZ : -0.680858476764257
ExAC_delZ : 0.189387474542123
ExAC_dupZ : -1.00068967075933
ExAC_synZ : 0.536489808349598
ExAC_misZ : 0.0636379461450042
GenCC_disease : PHARC syndrome
GenCC_moi : AR
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 20797687; 20797687[PMID]; 22938382; 24027063; 24697911; 25743180; 26359340; 27890673; 28041643; 28448692; 29571850; 29625443
NCBI_gene_ID : 26090
exon4-intron4Location : exon4-intron4
CytoBand : p11.21
Location2 : CDS
Tx : NM_015600
Tx_version : 5
Tx_start : 25294742
Tx_end : 25390835
Exon_count : 13
Overlapped_tx_length : 126
Overlapped_CDS_length : 39
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 39
Nearest_SS_type : 5'
Intersect_start : 25320111
Intersect_end : 25320237
613599; OMIM_ID : 613599;
OMIM_phenotype : Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2D-1 (GZF1,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 395
Gene_count : 1
fullAnnotation_mode : full
GZF1Gene_name : GZF1;
LOEUF_bin : 3
GnomAD_pLI : 1.7798e-03
ExAC_pLI : 7.8857e-03
HI : .
TS : .
DDD_HI_percent : 60.41
ExAC_cnvZ : 0.566998382689808
ExAC_delZ : 0.446211767722337
ExAC_dupZ : 0.385963476066028
ExAC_synZ : 0.487139764004285
ExAC_misZ : 2.68434418349457
Closest_left : LINC01431
Closest_right : NAPB
.Location : .
CytoBand : p11.21
613842; OMIM_ID : 613842;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Joint laxity, short stature, and myopia, 617662 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690; morbid:GZF1
po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817; 20:23364363-23373062
po_P_loss_percent : 0.01; 0.01; 4.54
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.355
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 395
splitAnnotation_mode : split
GZF1Gene_name : GZF1;
LOEUF_bin : 3
GnomAD_pLI : 1.7798e-03
ExAC_pLI : 7.8857e-03
HI : .
TS : .
DDD_HI_percent : 60.41
ACMG : .
ExAC_cnvZ : 0.566998382689808
ExAC_delZ : 0.446211767722337
ExAC_dupZ : 0.385963476066028
ExAC_synZ : 0.487139764004285
ExAC_misZ : 2.68434418349457
GenCC_disease : Larsen syndrome; joint laxity, short stature, and myopia
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 28475863; 28475863[PMID]; 33009817
NCBI_gene_ID : 64412
exon6-exon6Location : exon6-exon6
CytoBand : p11.21
Location2 : 3'UTR
Tx : XM_047440376
Tx_version : 1
Tx_start : 23361126
Tx_end : 23373062
Exon_count : 6
Overlapped_tx_length : 395
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 620
Nearest_SS_type : 3'
Intersect_start : 23370756
Intersect_end : 23371151
613842; OMIM_ID : 613842;
OMIM_phenotype : Joint laxity, short stature, and myopia, 617662 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11321
Gene_count : 1
fullAnnotation_mode : full
GZF1Gene_name : GZF1;
LOEUF_bin : 3
GnomAD_pLI : 1.7798e-03
ExAC_pLI : 7.8857e-03
HI : .
TS : .
DDD_HI_percent : 60.41
ExAC_cnvZ : 0.566998382689808
ExAC_delZ : 0.446211767722337
ExAC_dupZ : 0.385963476066028
ExAC_synZ : 0.487139764004285
ExAC_misZ : 2.68434418349457
Closest_left : LINC01431
Closest_right : NAPB
.Location : .
CytoBand : p11.21
613842; OMIM_ID : 613842;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
CST3 (morbid/RE=EA_enhancer); RE_gene : CST3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Joint laxity, short stature, and myopia, 617662 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690; morbid:GZF1
po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817; 20:23364363-23373062
po_P_loss_percent : 0.15; 0.42; 78.03
7P_snvindel_nb : 7
P_snvindel_phen : Joint_laxity,_short_stature,_and_myopia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:23359722-23359875; 20:23359876-23360169
Repeat_type_left : AluSx1; AluSx
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.355
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11321
splitAnnotation_mode : split
GZF1Gene_name : GZF1;
LOEUF_bin : 3
GnomAD_pLI : 1.7798e-03
ExAC_pLI : 7.8857e-03
HI : .
TS : .
DDD_HI_percent : 60.41
ACMG : .
ExAC_cnvZ : 0.566998382689808
ExAC_delZ : 0.446211767722337
ExAC_dupZ : 0.385963476066028
ExAC_synZ : 0.487139764004285
ExAC_misZ : 2.68434418349457
GenCC_disease : Larsen syndrome; joint laxity, short stature, and myopia
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 28475863; 28475863[PMID]; 33009817
NCBI_gene_ID : 64412
txStart-exon6Location : txStart-exon6
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : XM_011529321
Tx_version : 4
Tx_start : 23361130
Tx_end : 23373062
Exon_count : 6
Overlapped_tx_length : 10021
Overlapped_CDS_length : 2136
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : 1061
Nearest_SS_type : 3'
Intersect_start : 23361130
Intersect_end : 23371151
613842; OMIM_ID : 613842;
OMIM_phenotype : Joint laxity, short stature, and myopia, 617662 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
7P_snvindel_nb : 7
P_snvindel_phen : Joint_laxity,_short_stature,_and_myopia
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 18468
Gene_count : 1
fullAnnotation_mode : full
CFAP61Gene_name : CFAP61;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 50.42
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904880
Closest_right : LOC105372554
.Location : .
CytoBand : p11.23
620381; OMIM_ID : 620381;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.14; 0.51; 0.25; 0.64
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:20215882-20219488 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.455
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 18468
splitAnnotation_mode : split
CFAP61Gene_name : CFAP61;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 50.42
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26074
intron17-intron17Location : intron17-intron17
CytoBand : p11.23
Location2 : CDS
Tx : NM_015585
Tx_version : 4
Tx_start : 20052531
Tx_end : 20360698
Exon_count : 27
Overlapped_tx_length : 18468
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1139
Nearest_SS_type : 3'
Intersect_start : 20208641
Intersect_end : 20227109
620381; OMIM_ID : 620381;
OMIM_phenotype : Spermatogenic failure 84, 620409 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1784
Gene_count : 1
fullAnnotation_mode : full
NAA20Gene_name : NAA20;
LOEUF_bin : 5
GnomAD_pLI : 6.2021e-03
ExAC_pLI : 1.3606e-02
HI : .
TS : .
DDD_HI_percent : 25.01
ExAC_cnvZ : 0.738281486635094
ExAC_delZ : 0.884909054692732
ExAC_dupZ : 0.424906671458915
ExAC_synZ : 0.585755365868259
ExAC_misZ : 1.18784696932409
Closest_left : RIN2
Closest_right : CRNKL1
.Location : .
CytoBand : p11.23
610833; OMIM_ID : 610833;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AR 73, 619717 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:NAA20
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:20017795-20033629
po_P_loss_percent : 0.01; 0.05; 0.02; 0.06; 11.27
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:20029337-20029633; 20:20029634-20029801; 20:20029802-20029877
Repeat_type_left : AluSz; L1ME4b; MER58C
Gap_left : .
GC_content_left : 0.290
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20031390-20032061
Repeat_type_right : L1ME4b
Gap_right : .
GC_content_right : 0.320
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1784
splitAnnotation_mode : split
NAA20Gene_name : NAA20;
LOEUF_bin : 5
GnomAD_pLI : 6.2021e-03
ExAC_pLI : 1.3606e-02
HI : .
TS : .
DDD_HI_percent : 25.01
ACMG : .
ExAC_cnvZ : 0.738281486635094
ExAC_delZ : 0.884909054692732
ExAC_dupZ : 0.424906671458915
ExAC_synZ : 0.585755365868259
ExAC_misZ : 1.18784696932409
GenCC_disease : intellectual developmental disorder, autosomal recessive 73
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 34230638
NCBI_gene_ID : 51126
intron4-intron4Location : intron4-intron4
CytoBand : p11.23
Location2 : CDS
Tx : NM_181528
Tx_version : 3
Tx_start : 20017289
Tx_end : 20033629
Exon_count : 5
Overlapped_tx_length : 1784
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1585
Nearest_SS_type : 3'
Intersect_start : 20029732
Intersect_end : 20031516
610833; OMIM_ID : 610833;
OMIM_phenotype : Intellectual developmental disorder, AR 73, 619717 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
NAA20Gene_name : NAA20;
LOEUF_bin : 5
GnomAD_pLI : 6.2021e-03
ExAC_pLI : 1.3606e-02
HI : .
TS : .
DDD_HI_percent : 25.01
ExAC_cnvZ : 0.738281486635094
ExAC_delZ : 0.884909054692732
ExAC_dupZ : 0.424906671458915
ExAC_synZ : 0.585755365868259
ExAC_misZ : 1.18784696932409
Closest_left : RIN2
Closest_right : CRNKL1
.Location : .
CytoBand : p11.23
610833; OMIM_ID : 610833;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AR 73, 619717 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:NAA20
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:20017795-20033629
po_P_loss_percent : 0.00; 0.01; 0.01; 0.02; 3.16
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:20029337-20029633; 20:20029634-20029801; 20:20029802-20029877
Repeat_type_left : AluSz; L1ME4b; MER58C
Gap_left : .
GC_content_left : 0.290
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20029982-20031313
Repeat_type_right : L1ME4b
Gap_right : .
GC_content_right : 0.350
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
NAA20Gene_name : NAA20;
LOEUF_bin : 5
GnomAD_pLI : 6.2021e-03
ExAC_pLI : 1.3606e-02
HI : .
TS : .
DDD_HI_percent : 25.01
ACMG : .
ExAC_cnvZ : 0.738281486635094
ExAC_delZ : 0.884909054692732
ExAC_dupZ : 0.424906671458915
ExAC_synZ : 0.585755365868259
ExAC_misZ : 1.18784696932409
GenCC_disease : intellectual developmental disorder, autosomal recessive 73
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 34230638
NCBI_gene_ID : 51126
intron4-intron4Location : intron4-intron4
CytoBand : p11.23
Location2 : CDS
Tx : NM_181528
Tx_version : 3
Tx_start : 20017289
Tx_end : 20033629
Exon_count : 5
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2813
Nearest_SS_type : 5'
Intersect_start : 20029732
Intersect_end : 20030232
610833; OMIM_ID : 610833;
OMIM_phenotype : Intellectual developmental disorder, AR 73, 619717 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2457
Gene_count : 1
fullAnnotation_mode : full
NAA20Gene_name : NAA20;
LOEUF_bin : 5
GnomAD_pLI : 6.2021e-03
ExAC_pLI : 1.3606e-02
HI : .
TS : .
DDD_HI_percent : 25.01
ExAC_cnvZ : 0.738281486635094
ExAC_delZ : 0.884909054692732
ExAC_dupZ : 0.424906671458915
ExAC_synZ : 0.585755365868259
ExAC_misZ : 1.18784696932409
Closest_left : RIN2
Closest_right : CRNKL1
.Location : .
CytoBand : p11.23
610833; OMIM_ID : 610833;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Intellectual developmental disorder, AR 73, 619717 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:NAA20
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:20017795-20033629
po_P_loss_percent : 0.02; 0.07; 0.03; 0.08; 15.52
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:20020023-20020126
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.315
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2457
splitAnnotation_mode : split
NAA20Gene_name : NAA20;
LOEUF_bin : 5
GnomAD_pLI : 6.2021e-03
ExAC_pLI : 1.3606e-02
HI : .
TS : .
DDD_HI_percent : 25.01
ACMG : .
ExAC_cnvZ : 0.738281486635094
ExAC_delZ : 0.884909054692732
ExAC_dupZ : 0.424906671458915
ExAC_synZ : 0.585755365868259
ExAC_misZ : 1.18784696932409
GenCC_disease : intellectual developmental disorder, autosomal recessive 73
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 34230638
NCBI_gene_ID : 51126
intron1-exon2Location : intron1-exon2
CytoBand : p11.23
Location2 : CDS
Tx : NM_181528
Tx_version : 3
Tx_start : 20017289
Tx_end : 20033629
Exon_count : 5
Overlapped_tx_length : 2457
Overlapped_CDS_length : 3
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3
Nearest_SS_type : 3'
Intersect_start : 20020001
Intersect_end : 20022458
610833; OMIM_ID : 610833;
OMIM_phenotype : Intellectual developmental disorder, AR 73, 619717 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5083
Gene_count : 1
fullAnnotation_mode : full
RIN2Gene_name : RIN2;
LOEUF_bin : 2
GnomAD_pLI : 8.1408e-04
ExAC_pLI : 8.2956e-03
HI : .
TS : .
DDD_HI_percent : 39.64
ExAC_cnvZ : 0.482178397152832
ExAC_delZ : 0.323657252866233
ExAC_dupZ : 0.352436784153701
ExAC_synZ : 0.791696177000152
ExAC_misZ : 0.256852541235514
Closest_left : SLC24A3-AS1
Closest_right : NAA20
.Location : .
CytoBand : p11.23
610222; OMIM_ID : 610222;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241; morbid:RIN2
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759; 20:19935110-20002456
po_P_loss_percent : 0.04; 0.14; 0.07; 0.18; 6.22
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:19997979-19998281; 20:19998316-19998629
Repeat_type_left : AluSz; AluJr
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20003430-20003556
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.440
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5083
splitAnnotation_mode : split
RIN2Gene_name : RIN2;
LOEUF_bin : 2
GnomAD_pLI : 8.1408e-04
ExAC_pLI : 8.2956e-03
HI : 30
TS : .
DDD_HI_percent : 39.64
ACMG : .
ExAC_cnvZ : 0.482178397152832
ExAC_delZ : 0.323657252866233
ExAC_dupZ : 0.352436784153701
ExAC_synZ : 0.791696177000152
ExAC_misZ : 0.256852541235514
GenCC_disease : RIN2 syndrome
GenCC_moi : AR
GenCC_classification : Strong; Supportive
GenCC_pmid : 19631308; 19631308[PMID]_24449201[PMID]; 20424861; 20954239; 23963297; 24449201; 27277385
NCBI_gene_ID : 54453
intron14-txEndLocation : intron14-txEnd
CytoBand : p11.23
Location2 : CDS-3'UTR
Tx : XM_017027887
Tx_version : 2
Tx_start : 19757598
Tx_end : 20002456
Exon_count : 15
Overlapped_tx_length : 4191
Overlapped_CDS_length : 324
Overlapped_CDS_percent : 11
Frameshift : no
Dist_nearest_SS : 1423
Nearest_SS_type : 5'
Intersect_start : 19998265
Intersect_end : 20002456
610222; OMIM_ID : 610222;
OMIM_phenotype : Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.45
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-2 (SEC23B, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2937
Gene_count : 1
fullAnnotation_mode : full
SEC23BGene_name : SEC23B;
LOEUF_bin : 5
GnomAD_pLI : 6.0973e-20
ExAC_pLI : 6.8593e-14
HI : .
TS : .
DDD_HI_percent : 45.77
ExAC_cnvZ : -0.370110017491931
ExAC_delZ : 0.33173752575717
ExAC_dupZ : -0.728551144712417
ExAC_synZ : -0.128997102453763
ExAC_misZ : 0.117728934206789
Closest_left : RBBP9
Closest_right : SMIM26
.Location : .
CytoBand : p11.23
610512; OMIM_ID : 610512;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/[...]RE_gene : BFSP1 (morbid/RE=EA_enhancer); OVOL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : ?Cowden syndrome 7, 616858 (3) AD; Dyserythropoietic anemia, congenital, type II, 224100 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; morbid:SEC23B; dbVar:nssv15161664
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18507940-18561415; 20:18520274-25866684
po_P_loss_percent : 0.02; 0.08; 5.49; 0.04
10P_snvindel_nb : 10
P_snvindel_phen : Congenital_dyserythropoietic_anemia,_type_II; Cowden_syndrome_7
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:18526841-18526948 dbVar
po_B_loss_someG_coord : chr20:18523418-18524234 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18523703-18524002; 20:18524003-18524221
Repeat_type_left : AluJo; L2a
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18526798-18526934; 20:18526935-18527244
Repeat_type_right : AluSz; AluSz6
Gap_right : .
GC_content_right : 0.440
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2937
splitAnnotation_mode : split
SEC23BGene_name : SEC23B;
LOEUF_bin : 5
GnomAD_pLI : 6.0973e-20
ExAC_pLI : 6.8593e-14
HI : 30
TS : 0
DDD_HI_percent : 45.77
ACMG : .
ExAC_cnvZ : -0.370110017491931
ExAC_delZ : 0.33173752575717
ExAC_dupZ : -0.728551144712417
ExAC_synZ : -0.128997102453763
ExAC_misZ : 0.117728934206789
GenCC_disease : Cowden disease; Cowden syndrome 7; congenital dyserythropoietic anemia; congenital dyserythropoietic anemia type 2
GenCC_moi : AD; AR
GenCC_classification : Definitive; Limited; Strong; Supportive
GenCC_pmid : 19561605; 19621418; 20015893; 25044164; 26522472; 26522472[PMID]; NULL
NCBI_gene_ID : 10483
intron4-intron8Location : intron4-intron8
CytoBand : p11.23
Location2 : CDS
Tx : NM_032986
Tx_version : 5
Tx_start : 18507547
Tx_end : 18561415
Exon_count : 20
Overlapped_tx_length : 2937
Overlapped_CDS_length : 627
Overlapped_CDS_percent : 27
Frameshift : no
Dist_nearest_SS : 317
Nearest_SS_type : 5'
Intersect_start : 18523911
Intersect_end : 18526848
610512; OMIM_ID : 610512;
OMIM_phenotype : ?Cowden syndrome 7, 616858 (3) AD;
Dyserythropoietic anemia, congenital, type II, 224100 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
10P_snvindel_nb : 10
P_snvindel_phen : Congenital_dyserythropoietic_anemia,_type_II; Cowden_syndrome_7
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 13933
Gene_count : 1
fullAnnotation_mode : full
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
Closest_left : LOC105372522
Closest_right : LAMP5-AS1
.Location : .
CytoBand : p12.2
600810; OMIM_ID : 600810;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Auriculocondylar syndrome 2A, 614669 (3) AD; Auriculocondylar syndrome 2B, 620458 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; morbid:PLCB4
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9403006-9480808
po_P_loss_percent : 0.10; 0.16; 0.17; 0.21; 0.40; 0.10; 17.91
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:9438085-9438395
Repeat_type_right : AluYk4
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13933
splitAnnotation_mode : split
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ACMG : .
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857
NCBI_gene_ID : 5332
intron27-intron29Location : intron27-intron29
CytoBand : p12.2
Location2 : CDS
Tx : NM_001377134
Tx_version : 2
Tx_start : 9068677
Tx_end : 9480808
Exon_count : 39
Overlapped_tx_length : 13933
Overlapped_CDS_length : 240
Overlapped_CDS_percent : 6
Frameshift : no
Dist_nearest_SS : 424
Nearest_SS_type : 5'
Intersect_start : 9424376
Intersect_end : 9438309
600810; OMIM_ID : 600810;
OMIM_phenotype : Auriculocondylar syndrome 2A, 614669 (3) AD;
Auriculocondylar syndrome 2B, 620458 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 9340
Gene_count : 1
fullAnnotation_mode : full
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
Closest_left : LOC105372522
Closest_right : LAMP5-AS1
.Location : .
CytoBand : p12.2
600810; OMIM_ID : 600810;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012
po_P_loss_percent : 0.07; 0.11; 0.11; 0.14; 0.27; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:9360974-9361669
Repeat_type_right : L1MB3
Gap_right : .
GC_content_right : 0.360
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 9340
splitAnnotation_mode : split
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ACMG : .
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857
NCBI_gene_ID : 5332
intron7-intron7Location : intron7-intron7
CytoBand : p12.2
Location2 : CDS
Tx : NM_001377134
Tx_version : 2
Tx_start : 9068677
Tx_end : 9480808
Exon_count : 39
Overlapped_tx_length : 9340
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1946
Nearest_SS_type : 3'
Intersect_start : 9351609
Intersect_end : 9360949
600810; OMIM_ID : 600810;
OMIM_phenotype : Auriculocondylar syndrome 2A, 614669 (3) AD;
Auriculocondylar syndrome 2B, 620458 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.45
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2E-2 (PLCB4, +0.45): Both breakpoints are within the same HI gene / morbid gene (intragenic CNV; gene-level sequence variant) and >=1 exon deleted AND other established pathogenic snv/indel have been reported in the observed CNV AND variant removes >= 10% of protein
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 72007
Gene_count : 1
fullAnnotation_mode : full
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
Closest_left : LOC105372522
Closest_right : LAMP5-AS1
.Location : .
CytoBand : p12.2
600810; OMIM_ID : 600810;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012
po_P_loss_percent : 0.51; 0.83; 0.87; 1.06; 2.08; 0.53
1P_snvindel_nb : 1
P_snvindel_phen : Auriculocondylar_syndrome_1
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:9325243-9325695 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:9388883-9389748
Repeat_type_right : L4_A_Mam
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 72007
splitAnnotation_mode : split
PLCB4Gene_name : PLCB4;
LOEUF_bin : 2
GnomAD_pLI : 3.0437e-06
ExAC_pLI : 2.7226e-01
HI : .
TS : .
DDD_HI_percent : 7.39
ACMG : .
ExAC_cnvZ : 1.09866851327355
ExAC_delZ : 0.994897118266721
ExAC_dupZ : 0.941346197815781
ExAC_synZ : 0.89464512518817
ExAC_misZ : 3.13466058173666
GenCC_disease : auriculocondylar syndrome; auriculocondylar syndrome 1; auriculocondylar syndrome 2
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 22560091; 22560091[PMID]; 23315542; 23913798; 27007857
NCBI_gene_ID : 5332
intron4-intron15Location : intron4-intron15
CytoBand : p12.2
Location2 : CDS
Tx : NM_001377134
Tx_version : 2
Tx_start : 9068677
Tx_end : 9480808
Exon_count : 39
Overlapped_tx_length : 72007
Overlapped_CDS_length : 1074
Overlapped_CDS_percent : 29
Frameshift : no
Dist_nearest_SS : 350
Nearest_SS_type : 3'
Intersect_start : 9317521
Intersect_end : 9389528
600810; OMIM_ID : 600810;
OMIM_phenotype : Auriculocondylar syndrome 2A, 614669 (3) AD;
Auriculocondylar syndrome 2B, 620458 (3) AR;
OMIM_inheritance : AD; AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Auriculocondylar_syndrome_1
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
CRLS1Gene_name : CRLS1;
LOEUF_bin : 5
GnomAD_pLI : 3.1076e-03
ExAC_pLI : 3.3508e-02
HI : .
TS : .
DDD_HI_percent : 35.79
ExAC_cnvZ : 0.766326073232298
ExAC_delZ : 0.634248000685519
ExAC_dupZ : 0.544642995721259
ExAC_synZ : 0.488280520880372
ExAC_misZ : -0.0103810121795492
Closest_left : MCM8-AS1
Closest_right : LRRN4
.Location : .
CytoBand : p12.3
608188; OMIM_ID : 608188;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; morbid:CRLS1
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:6007249-6040053
po_P_loss_percent : 0.02; 0.01; 0.01; 0.04; 0.01; 3.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:6033364-6040117 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:6032366-6032497
Repeat_type_left : FLAM_C
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:6033435-6033447
Repeat_type_right : (ATTTT)n
Gap_right : .
GC_content_right : 0.410
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
CRLS1Gene_name : CRLS1;
LOEUF_bin : 5
GnomAD_pLI : 3.1076e-03
ExAC_pLI : 3.3508e-02
HI : .
TS : .
DDD_HI_percent : 35.79
ACMG : .
ExAC_cnvZ : 0.766326073232298
ExAC_delZ : 0.634248000685519
ExAC_dupZ : 0.544642995721259
ExAC_synZ : 0.488280520880372
ExAC_misZ : -0.0103810121795492
GenCC_disease : combined oxidative phosphorylation deficiency 57
GenCC_moi : AR
GenCC_classification : Limited; Strong
GenCC_pmid : 35147173
NCBI_gene_ID : 54675
intron5-intron5Location : intron5-intron5
CytoBand : p12.3
Location2 : CDS
Tx : NM_001323562
Tx_version : 2
Tx_start : 6005937
Tx_end : 6040053
Exon_count : 7
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 459
Nearest_SS_type : 5'
Intersect_start : 6032539
Intersect_end : 6033539
608188; OMIM_ID : 608188;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 57, 620167 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
NTSR1Gene_name : NTSR1;
LOEUF_bin : 7
GnomAD_pLI : 1.9280e-08
ExAC_pLI : 9.7293e-08
HI : .
TS : .
DDD_HI_percent : 13.25
ExAC_cnvZ : -0.94782725861227
ExAC_delZ : -0.0414623751871609
ExAC_dupZ : -1.23487206842764
ExAC_synZ : 2.18457520996231
ExAC_misZ : 1.01993292008133
Closest_left : SLCO4A1-AS1
Closest_right : LINC00659
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620; dbVar:nssv15149838
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202; 20:62706178-64273148
po_P_loss_percent : 0.05; 0.07; 0.06; 0.06; 0.06; 0.06; 0.06; 0.06; 0.09; 0.06; 0.06; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62729526-62729603; 20:62729627-62729922
Repeat_type_left : MER5B; AluSx1
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62729935-62731071
Repeat_type_right : L1MC2
Gap_right : .
GC_content_right : 0.455
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
NTSR1Gene_name : NTSR1;
LOEUF_bin : 7
GnomAD_pLI : 1.9280e-08
ExAC_pLI : 9.7293e-08
HI : .
TS : .
DDD_HI_percent : 13.25
ACMG : .
ExAC_cnvZ : -0.94782725861227
ExAC_delZ : -0.0414623751871609
ExAC_dupZ : -1.23487206842764
ExAC_synZ : 2.18457520996231
ExAC_misZ : 1.01993292008133
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4923
intron1-intron1Location : intron1-intron1
CytoBand : q13.33
Location2 : CDS
Tx : NM_002531
Tx_version : 3
Tx_start : 62708835
Tx_end : 62762771
Exon_count : 4
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 19648
Nearest_SS_type : 5'
Intersect_start : 62729569
Intersect_end : 62730569
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 24912
Gene_count : 1
fullAnnotation_mode : full
SLCO4A1Gene_name : SLCO4A1;
LOEUF_bin : 5
GnomAD_pLI : 1.0328e-10
ExAC_pLI : 5.3410e-07
HI : .
TS : .
DDD_HI_percent : 75.43
ExAC_cnvZ : -0.245712066442584
ExAC_delZ : 0.18219566472661
ExAC_dupZ : -0.440849988370928
ExAC_synZ : -0.670112009533613
ExAC_misZ : 0.560511823796261
Closest_left : SLCO4A1-AS1
Closest_right : NTSR1
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
RTEL1 (morbid/RE=EA_enhancer); OSBPL2 (morbid[...]RE_gene : RTEL1 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202
po_P_loss_percent : 1.34; 1.80; 1.37; 1.57; 1.47; 1.44; 1.45; 1.46; 2.14; 1.52; 1.54
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:62672535-62673787 gnomAD-SV_v3_DEL_chr20_eacecaaa; chr20:62672885-62673792 dbVar; 20:62672886-62673792 esv3646294; chr20:62672898-62673787 HPRC:pbsv.DEL.5244; 20:62672899-62673787 DDD:55240; 20:62672899-62673787 esv2658311; chr20:62689246-62689278 HPRC:pbsv.DEL.5255
po_B_loss_someG_coord : chr20:62672038-62674408 dbVar; chr20:62672782-62673346 gnomAD-SV_v3_DEL_chr20_4cf6766f; 20:62672886-62673792 1000g; 20:62672898-62673787 CMRI:6_pbsv.DEL.1462_duplicate5; chr20:62672898-62673787 dbVar; 20:62672899-62673787 IMH; chr20:62673252-62673276 HPRC:pbsv.DEL.5245
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62669919-62670104
Repeat_type_left : Tigger7
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62693920-62694856; 20:62694861-62694942
Repeat_type_right : MER21C; MLT1E2
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 24912
splitAnnotation_mode : split
SLCO4A1Gene_name : SLCO4A1;
LOEUF_bin : 5
GnomAD_pLI : 1.0328e-10
ExAC_pLI : 5.3410e-07
HI : .
TS : .
DDD_HI_percent : 75.43
ACMG : .
ExAC_cnvZ : -0.245712066442584
ExAC_delZ : 0.18219566472661
ExAC_dupZ : -0.440849988370928
ExAC_synZ : -0.670112009533613
ExAC_misZ : 0.560511823796261
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 28231
intron11-txEndLocation : intron11-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : XM_011528792
Tx_version : 4
Tx_start : 62642502
Tx_end : 62677339
Exon_count : 12
Overlapped_tx_length : 7452
Overlapped_CDS_length : 282
Overlapped_CDS_percent : 12
Frameshift : no
Dist_nearest_SS : 809
Nearest_SS_type : 5'
Intersect_start : 62669887
Intersect_end : 62677339
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SLCO4A1Gene_name : SLCO4A1;
LOEUF_bin : 5
GnomAD_pLI : 1.0328e-10
ExAC_pLI : 5.3410e-07
HI : .
TS : .
DDD_HI_percent : 75.43
ExAC_cnvZ : -0.245712066442584
ExAC_delZ : 0.18219566472661
ExAC_dupZ : -0.440849988370928
ExAC_synZ : -0.670112009533613
ExAC_misZ : 0.560511823796261
Closest_left : SLCO4A1-AS1
Closest_right : NTSR1
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202
po_P_loss_percent : 0.03; 0.04; 0.03; 0.03; 0.03; 0.03; 0.03; 0.03; 0.04; 0.03; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62669919-62670104
Repeat_type_left : Tigger7
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62670320-62670542
Repeat_type_right : Tigger7
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SLCO4A1Gene_name : SLCO4A1;
LOEUF_bin : 5
GnomAD_pLI : 1.0328e-10
ExAC_pLI : 5.3410e-07
HI : .
TS : .
DDD_HI_percent : 75.43
ACMG : .
ExAC_cnvZ : -0.245712066442584
ExAC_delZ : 0.18219566472661
ExAC_dupZ : -0.440849988370928
ExAC_synZ : -0.670112009533613
ExAC_misZ : 0.560511823796261
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 28231
intron11-exon12Location : intron11-exon12
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : XM_017027827
Tx_version : 3
Tx_start : 62642502
Tx_end : 62672293
Exon_count : 12
Overlapped_tx_length : 500
Overlapped_CDS_length : 78
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 63
Nearest_SS_type : 3'
Intersect_start : 62669887
Intersect_end : 62670387
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11312
Gene_count : 1
fullAnnotation_mode : full
SLCO4A1Gene_name : SLCO4A1;
LOEUF_bin : 5
GnomAD_pLI : 1.0328e-10
ExAC_pLI : 5.3410e-07
HI : .
TS : .
DDD_HI_percent : 75.43
ExAC_cnvZ : -0.245712066442584
ExAC_delZ : 0.18219566472661
ExAC_dupZ : -0.440849988370928
ExAC_synZ : -0.670112009533613
ExAC_misZ : 0.560511823796261
Closest_left : SLCO4A1-AS1
Closest_right : NTSR1
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer); RTEL1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506; dbVar:nssv18841909; dbVar:nssv17955984; dbVar:nssv15138620
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202; 20:62632018-63794804; 20:62642503-64276226; 20:62663308-64284202
po_P_loss_percent : 0.61; 0.82; 0.62; 0.71; 0.67; 0.65; 0.66; 0.66; 0.97; 0.69; 0.70
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:62672535-62673787 gnomAD-SV_v3_DEL_chr20_eacecaaa; chr20:62672885-62673792 dbVar; 20:62672886-62673792 esv3646294; chr20:62672898-62673787 HPRC:pbsv.DEL.5244; 20:62672899-62673787 DDD:55240; 20:62672899-62673787 esv2658311;
po_B_loss_someG_coord : chr20:62672038-62674408 dbVar; chr20:62672782-62673346 gnomAD-SV_v3_DEL_chr20_4cf6766f; 20:62672886-62673792 1000g; 20:62672898-62673787 CMRI:6_pbsv.DEL.1462_duplicate5; chr20:62672898-62673787 dbVar; 20:62672899-62673787 IMH; chr20:62673252-62673276 HPRC:pbsv.DEL.5245
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.465
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62680141-62680908; 20:62680909-62681185
Repeat_type_right : L1MD; AluJb
Gap_right : .
GC_content_right : 0.470
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11312
splitAnnotation_mode : split
SLCO4A1Gene_name : SLCO4A1;
LOEUF_bin : 5
GnomAD_pLI : 1.0328e-10
ExAC_pLI : 5.3410e-07
HI : .
TS : .
DDD_HI_percent : 75.43
ACMG : .
ExAC_cnvZ : -0.245712066442584
ExAC_delZ : 0.18219566472661
ExAC_dupZ : -0.440849988370928
ExAC_synZ : -0.670112009533613
ExAC_misZ : 0.560511823796261
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 28231
intron11-txEndLocation : intron11-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : XM_011528792
Tx_version : 4
Tx_start : 62642502
Tx_end : 62677339
Exon_count : 12
Overlapped_tx_length : 7738
Overlapped_CDS_length : 282
Overlapped_CDS_percent : 12
Frameshift : no
Dist_nearest_SS : 523
Nearest_SS_type : 5'
Intersect_start : 62669601
Intersect_end : 62677339
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4015
Gene_count : 1
fullAnnotation_mode : full
LOC124904947Gene_name : LOC124904947;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372711
Closest_right : LOC105376995
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639
po_P_loss_percent : 0.22; 0.29; 0.22; 0.25
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.680
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4015
splitAnnotation_mode : split
LOC124904947Gene_name : LOC124904947;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : XR_007067707
Tx_version : 1
Tx_start : 62494824
Tx_end : 62496014
Exon_count : 2
Overlapped_tx_length : 1190
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62494824
Intersect_end : 62496014
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4015
Gene_count : 1
fullAnnotation_mode : full
LOC124904947Gene_name : LOC124904947;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372711
Closest_right : LOC105376995
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639
po_P_loss_percent : 0.22; 0.29; 0.22; 0.25
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.680
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4015
splitAnnotation_mode : split
LOC124904947Gene_name : LOC124904947;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : XR_007067707
Tx_version : 1
Tx_start : 62494824
Tx_end : 62496014
Exon_count : 2
Overlapped_tx_length : 1190
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62494824
Intersect_end : 62496014
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6277
Gene_count : 1
fullAnnotation_mode : full
LOC105372708Gene_name : LOC105372708;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LAMA5-AS1
Closest_right : RPS21-DT
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:62384062-62385369 dbVar
po_B_loss_someG_coord : chr20:62383727-62383885 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.665
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62384306-62384369; 20:62384370-62384674
Repeat_type_right : L1MD; AluJb
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6277
splitAnnotation_mode : split
LOC105372708Gene_name : LOC105372708;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron1Location : txStart-intron1
CytoBand : q13.33
Location2 : UTR
Tx : XR_936966
Tx_version : 4
Tx_start : 62373814
Tx_end : 62378827
Exon_count : 2
Overlapped_tx_length : 640
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 92
Nearest_SS_type : 5'
Intersect_start : 62378187
Intersect_end : 62378827
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11019
Gene_count : 1
fullAnnotation_mode : full
LOC105372708Gene_name : LOC105372708;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LAMA5-AS1
Closest_right : RPS21-DT
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:62373486-62373556 HPRC:pbsv.DEL.5141; chr20:62373538-62373678 HPRC:pbsv.DEL.5142; chr20:62373574-62373714 dbVar; 20:62376895-62377026 CMRI:14_pbsv.DEL.1231_duplicate5; chr20:62376896-62377026 dbVar; chr20:62383727-62383885 dbVar;
po_B_loss_someG_coord : 20:62373486-62373556 CMRI:5_pbsv.DEL.1206_duplicate6; 20:62373538-62373678 CMRI:1_pbsv.DEL.849_duplicate7; 20:62373538-62373748 CMRI:27_pbsv.DEL.756_duplicate6; chr20:62373678-62373748 HPRC:pbsv.DEL.5143; 20:62376896-62377026 1000g; chr20:62376896-62377026 gnomAD-SV_v3_DEL_chr20_cafcca3b; chr20:62384062-62385369 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62372985-62373366
Repeat_type_left : HAL1b
Gap_left : .
GC_content_left : 0.625
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62384306-62384369; 20:62384370-62384674
Repeat_type_right : L1MD; AluJb
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11019
splitAnnotation_mode : split
LOC105372708Gene_name : LOC105372708;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : XR_936966
Tx_version : 4
Tx_start : 62373814
Tx_end : 62378827
Exon_count : 2
Overlapped_tx_length : 5013
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62373814
Intersect_end : 62378827
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2198
Gene_count : 1
fullAnnotation_mode : full
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
Closest_left : SS18L1
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62196748-62197065
Repeat_type_left : AluSq2
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.550
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2198
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
intron3-intron5Location : intron3-intron5
CytoBand : q13.33
Location2 : CDS
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 2198
Overlapped_CDS_length : 335
Overlapped_CDS_percent : 26
Frameshift : yes
Dist_nearest_SS : 117
Nearest_SS_type : 3'
Intersect_start : 62196803
Intersect_end : 62199001
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3354
Gene_count : 1
fullAnnotation_mode : full
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
Closest_left : SS18L1
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62185351-62195070 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.360
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3354
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
intron2-intron3Location : intron2-intron3
CytoBand : q13.33
Location2 : CDS
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 3354
Overlapped_CDS_length : 148
Overlapped_CDS_percent : 11
Frameshift : yes
Dist_nearest_SS : 194
Nearest_SS_type : 3'
Intersect_start : 62194303
Intersect_end : 62197657
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1500
Gene_count : 1
fullAnnotation_mode : full
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
Closest_left : SS18L1
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62185351-62195070 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.490
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1500
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
intron2-exon3Location : intron2-exon3
CytoBand : q13.33
Location2 : CDS
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 1500
Overlapped_CDS_length : 2
Overlapped_CDS_percent : 0
Frameshift : yes
Dist_nearest_SS : 2
Nearest_SS_type : 3'
Intersect_start : 62194303
Intersect_end : 62195803
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5198
Gene_count : 1
fullAnnotation_mode : full
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
Closest_left : SS18L1
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62185351-62195070 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.550
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5198
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
intron2-intron5Location : intron2-intron5
CytoBand : q13.33
Location2 : CDS
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 5198
Overlapped_CDS_length : 483
Overlapped_CDS_percent : 37
Frameshift : no
Dist_nearest_SS : 117
Nearest_SS_type : 3'
Intersect_start : 62193803
Intersect_end : 62199001
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5403
Gene_count : 1
fullAnnotation_mode : full
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
Closest_left : SS18L1
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62185351-62195070 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.625
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.550
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5403
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
exon2-intron5Location : exon2-intron5
CytoBand : q13.33
Location2 : CDS
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 5403
Overlapped_CDS_length : 563
Overlapped_CDS_percent : 44
Frameshift : yes
Dist_nearest_SS : 80
Nearest_SS_type : 5'
Intersect_start : 62193598
Intersect_end : 62199001
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4059
Gene_count : 1
fullAnnotation_mode : full
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
Closest_left : SS18L1
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62185351-62195070 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.625
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.360
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4059
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
exon2-intron3Location : exon2-intron3
CytoBand : q13.33
Location2 : CDS
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 4059
Overlapped_CDS_length : 228
Overlapped_CDS_percent : 17
Frameshift : no
Dist_nearest_SS : 80
Nearest_SS_type : 5'
Intersect_start : 62193598
Intersect_end : 62197657
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8132
Gene_count : 1
fullAnnotation_mode : full
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
Closest_left : SS18L1
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62185351-62195070 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.605
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8132
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
exon1-exon6Location : exon1-exon6
CytoBand : q13.33
Location2 : 5'UTR-3'UTR
Tx : XM_017027805
Tx_version : 2
Tx_start : 62189508
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 8132
Overlapped_CDS_length : 1305
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : 488
Nearest_SS_type : 5'
Intersect_start : 62193136
Intersect_end : 62201268
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 398
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62178565-62178761
Repeat_type_left : AluJb
Gap_left : .
GC_content_left : 0.510
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.535
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 398
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron11-intron11Location : intron11-intron11
CytoBand : q13.33
Location2 : UTR
Tx : NR_125980
Tx_version : 3
Tx_start : 62143768
Tx_end : 62182485
Exon_count : 13
Overlapped_tx_length : 398
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 74
Nearest_SS_type : 3'
Intersect_start : 62178709
Intersect_end : 62179107
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 898
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62178017-62178135; 20:62178136-62178452
Repeat_type_left : AluJo; AluSz
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.535
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 898
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron11-intron11Location : intron11-intron11
CytoBand : q13.33
Location2 : UTR
Tx : NR_125980
Tx_version : 3
Tx_start : 62143768
Tx_end : 62182485
Exon_count : 13
Overlapped_tx_length : 898
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 74
Nearest_SS_type : 3'
Intersect_start : 62178209
Intersect_end : 62179107
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62178017-62178135; 20:62178136-62178452
Repeat_type_left : AluJo; AluSz
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62178565-62178761
Repeat_type_right : AluJb
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron11-intron11Location : intron11-intron11
CytoBand : q13.33
Location2 : UTR
Tx : NR_125980
Tx_version : 3
Tx_start : 62143768
Tx_end : 62182485
Exon_count : 13
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 472
Nearest_SS_type : 3'
Intersect_start : 62178209
Intersect_end : 62178709
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3779
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62175407-62175554
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.635
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.535
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3779
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron11-intron11Location : intron11-intron11
CytoBand : q13.33
Location2 : UTR
Tx : NR_125980
Tx_version : 3
Tx_start : 62143768
Tx_end : 62182485
Exon_count : 13
Overlapped_tx_length : 3779
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 74
Nearest_SS_type : 3'
Intersect_start : 62175328
Intersect_end : 62179107
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 988
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.675
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62173428-62173725; 20:62173740-62174034
Repeat_type_right : AluSx1; AluJb
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 988
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
exon9-intron9Location : exon9-intron9
CytoBand : q13.33
Location2 : CDS
Tx : XM_005260389
Tx_version : 4
Tx_start : 62143768
Tx_end : 62176318
Exon_count : 10
Overlapped_tx_length : 988
Overlapped_CDS_length : 56
Overlapped_CDS_percent : 4
Frameshift : yes
Dist_nearest_SS : 56
Nearest_SS_type : 5'
Intersect_start : 62172745
Intersect_end : 62173733
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8581
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62165715-62165810 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62165152-62165272
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.605
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62173428-62173725; 20:62173740-62174034
Repeat_type_right : AluSx1; AluJb
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8581
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron7-intron9Location : intron7-intron9
CytoBand : q13.33
Location2 : CDS
Tx : XM_005260389
Tx_version : 4
Tx_start : 62143768
Tx_end : 62176318
Exon_count : 10
Overlapped_tx_length : 8581
Overlapped_CDS_length : 213
Overlapped_CDS_percent : 17
Frameshift : no
Dist_nearest_SS : 269
Nearest_SS_type : 3'
Intersect_start : 62165152
Intersect_end : 62173733
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3534
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62165715-62165810 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62165152-62165272
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.605
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62168539-62168827
Repeat_type_right : AluJb
Gap_right : .
GC_content_right : 0.560
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3534
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron7-intron8Location : intron7-intron8
CytoBand : q13.33
Location2 : CDS
Tx : XM_005260389
Tx_version : 4
Tx_start : 62143768
Tx_end : 62176318
Exon_count : 10
Overlapped_tx_length : 3534
Overlapped_CDS_length : 93
Overlapped_CDS_percent : 7
Frameshift : no
Dist_nearest_SS : 269
Nearest_SS_type : 3'
Intersect_start : 62165152
Intersect_end : 62168686
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11386
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62165715-62165810 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62161939-62162257; 20:62162294-62162603
Repeat_type_left : AluJb; AluSx
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62173428-62173725; 20:62173740-62174034
Repeat_type_right : AluSx1; AluJb
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11386
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron4-intron9Location : intron4-intron9
CytoBand : q13.33
Location2 : CDS
Tx : XM_005260389
Tx_version : 4
Tx_start : 62143768
Tx_end : 62176318
Exon_count : 10
Overlapped_tx_length : 11386
Overlapped_CDS_length : 660
Overlapped_CDS_percent : 52
Frameshift : no
Dist_nearest_SS : 404
Nearest_SS_type : 3'
Intersect_start : 62162347
Intersect_end : 62173733
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1943
Gene_count : 1
fullAnnotation_mode : full
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : MTG2
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62161939-62162257; 20:62162294-62162603
Repeat_type_left : AluJb; AluSx
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.685
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1943
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron4-intron7Location : intron4-intron7
CytoBand : q13.33
Location2 : CDS
Tx : XM_005260389
Tx_version : 4
Tx_start : 62143768
Tx_end : 62176318
Exon_count : 10
Overlapped_tx_length : 1943
Overlapped_CDS_length : 447
Overlapped_CDS_percent : 35
Frameshift : no
Dist_nearest_SS : 44
Nearest_SS_type : 5'
Intersect_start : 62162347
Intersect_end : 62164290
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 231
Gene_count : 1
fullAnnotation_mode : full
LOC105372706Gene_name : LOC105372706;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372705
Closest_right : LSM14B
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62120584-62120654
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.570
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62120778-62121082
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 231
splitAnnotation_mode : split
LOC105372706Gene_name : LOC105372706;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-intron1Location : intron1-intron1
CytoBand : q13.33
Location2 : UTR
Tx : XR_936962
Tx_version : 2
Tx_start : 62101142
Tx_end : 62123684
Exon_count : 4
Overlapped_tx_length : 231
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 931
Nearest_SS_type : 3'
Intersect_start : 62120524
Intersect_end : 62120755
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
Closest_left : LOC105372701
Closest_right : LOC105372703
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ACMG : .
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
GenCC_disease : multiple congenital anomalies/dysmorphic syndrome
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 1002
intron2-intron2Location : intron2-intron2
CytoBand : q13.33
Location2 : CDS
Tx : NM_001794
Tx_version : 5
Tx_start : 61252260
Tx_end : 61940617
Exon_count : 16
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 172636
Nearest_SS_type : 5'
Intersect_start : 61427573
Intersect_end : 61428073
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 18853
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.73
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.660
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 18853
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
exon1-intron2Location : exon1-intron2
CytoBand : q13.32
Location2 : 5'UTR-CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 18853
Overlapped_CDS_length : 82
Overlapped_CDS_percent : 5
Frameshift : yes
Dist_nearest_SS : 308
Nearest_SS_type : 5'
Intersect_start : 58496113
Intersect_end : 58514966
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1580
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58497390-58497777
Repeat_type_right : MLT1B
Gap_right : .
GC_content_right : 0.490
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1580
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-intron2Location : intron2-intron2
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 1580
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 16123
Nearest_SS_type : 5'
Intersect_start : 58496113
Intersect_end : 58497693
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 887
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58489796-58490284
Repeat_type_left : Arthur1
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58490287-58490797; 20:58490830-58492610
Repeat_type_right : Arthur1; L1ME3F
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 887
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-intron2Location : intron2-intron2
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 887
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 19221
Nearest_SS_type : 3'
Intersect_start : 58489968
Intersect_end : 58490855
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 18427
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.72
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58476184-58476488; 20:58476490-58476597
Repeat_type_left : AluSc8; L2a
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58494753-58495024
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.600
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 18427
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-intron2Location : intron2-intron2
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 18427
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5718
Nearest_SS_type : 3'
Intersect_start : 58476465
Intersect_end : 58494892
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11211
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.44
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58476184-58476488; 20:58476490-58476597
Repeat_type_left : AluSc8; L2a
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58487292-58487933
Repeat_type_right : L1ME3F
Gap_right : .
GC_content_right : 0.365
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11211
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-intron2Location : intron2-intron2
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 11211
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5718
Nearest_SS_type : 3'
Intersect_start : 58476465
Intersect_end : 58487676
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 650
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58476184-58476488; 20:58476490-58476597
Repeat_type_left : AluSc8; L2a
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58477037-58477787
Repeat_type_right : L1MC4a
Gap_right : .
GC_content_right : 0.355
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 650
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-intron2Location : intron2-intron2
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 650
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5718
Nearest_SS_type : 3'
Intersect_start : 58476465
Intersect_end : 58477115
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 922
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.645
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58468567-58468854; 20:58468913-58469183
Repeat_type_right : AluSz; MER113
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 922
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron3-intron3Location : intron3-intron3
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 922
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 318
Nearest_SS_type : 3'
Intersect_start : 58467976
Intersect_end : 58468898
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58461456-58461488
Repeat_type_left : G-rich
Gap_left : .
GC_content_left : 0.670
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58461665-58462098
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron4-exon5Location : intron4-exon5
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 500
Overlapped_CDS_length : 44
Overlapped_CDS_percent : 2
Frameshift : yes
Dist_nearest_SS : 44
Nearest_SS_type : 3'
Intersect_start : 58461510
Intersect_end : 58462010
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6237
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.24
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58455287-58455685; 20:58455707-58455755
Repeat_type_left : HAL1; L2b
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58461665-58462098
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6237
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron4-txEndLocation : intron4-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 2910
Overlapped_CDS_length : 765
Overlapped_CDS_percent : 49
Frameshift : no
Dist_nearest_SS : 456
Nearest_SS_type : 3'
Intersect_start : 58459100
Intersect_end : 58462010
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12904
Gene_count : 1
fullAnnotation_mode : full
LOC105372687Gene_name : LOC105372687;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC112268270
Closest_right : MIR4325
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248
po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310
po_P_loss_percent : 0.36; 0.50
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:57275515-57275840
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.465
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:57288460-57288643; 20:57288789-57289051
Repeat_type_right : MIRb; MIRb
Gap_right : .
GC_content_right : 0.450
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 12904
splitAnnotation_mode : split
LOC105372687Gene_name : LOC105372687;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron8-intron11Location : intron8-intron11
CytoBand : q13.31
Location2 : UTR
Tx : XR_007067670
Tx_version : 1
Tx_start : 57274357
Tx_end : 57329664
Exon_count : 12
Overlapped_tx_length : 12904
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 85
Nearest_SS_type : 5'
Intersect_start : 57275820
Intersect_end : 57288724
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 724
Gene_count : 1
fullAnnotation_mode : full
LOC105372649Gene_name : LOC105372649;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904925
Closest_right : KCNB1
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.01; 0.02; 0.03; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:49354598-49355437 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49353792-49354094; 20:49354095-49354168; 20:49354205-49354387
Repeat_type_left : AluJb; L1ME4b; MIRb
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49354828-49354944; 20:49354946-49355109
Repeat_type_right : MIRb; MLT1F
Gap_right : .
GC_content_right : 0.545
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 724
splitAnnotation_mode : split
LOC105372649Gene_name : LOC105372649;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : q13.13
Location2 : UTR
Tx : XR_001754659
Tx_version : 2
Tx_start : 49330333
Tx_end : 49439020
Exon_count : 4
Overlapped_tx_length : 724
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 22118
Nearest_SS_type : 5'
Intersect_start : 49354142
Intersect_end : 49354866
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2011
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.04; 0.05; 0.09; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:49210026-49218326 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49208931-49209234; 20:49209262-49209411
Repeat_type_left : AluSx; LTR78
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505
Repeat_type_right : L1MB5; FAM
Gap_right : .
GC_content_right : 0.390
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2011
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 2011
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7897
Nearest_SS_type : 5'
Intersect_start : 49209327
Intersect_end : 49211338
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4296
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.08; 0.10; 0.20; 0.16
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49210026-49218326 dbVar; chr20:49210026-49218326 dbVar
po_B_loss_someG_coord : chr20:49208763-49209084 dbVar; chr20:49208763-49209084 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49208502-49208544; 20:49208545-49208622; 20:49208623-49208921
Repeat_type_left : LTR78; AluJr; AluY
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228
Repeat_type_right : AluSp; AluJb
Gap_right : .
GC_content_right : 0.395
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4296
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.08; 0.10; 0.20; 0.16
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49210026-49218326 dbVar; chr20:49210026-49218326 dbVar
po_B_loss_someG_coord : chr20:49208763-49209084 dbVar; chr20:49208763-49209084 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49208502-49208544; 20:49208545-49208622; 20:49208623-49208921
Repeat_type_left : LTR78; AluJr; AluY
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228
Repeat_type_right : AluSp; AluJb
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4296
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 4296
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6310
Nearest_SS_type : 5'
Intersect_start : 49208629
Intersect_end : 49212925
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4296
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 4296
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6310
Nearest_SS_type : 5'
Intersect_start : 49208629
Intersect_end : 49212925
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2709
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.05; 0.06; 0.12; 0.10
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49210026-49218326 dbVar
po_B_loss_someG_coord : chr20:49208763-49209084 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49208502-49208544; 20:49208545-49208622; 20:49208623-49208921
Repeat_type_left : LTR78; AluJr; AluY
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505
Repeat_type_right : L1MB5; FAM
Gap_right : .
GC_content_right : 0.390
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2709
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 2709
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7897
Nearest_SS_type : 5'
Intersect_start : 49208629
Intersect_end : 49211338
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6954
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.12; 0.16; 0.32; 0.26
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49210026-49218326 dbVar
po_B_loss_someG_coord : chr20:49208763-49209084 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49205673-49205972; 20:49205976-49206293
Repeat_type_left : AluSp; AluSz
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228
Repeat_type_right : AluSp; AluJb
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6954
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 6954
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6310
Nearest_SS_type : 5'
Intersect_start : 49205971
Intersect_end : 49212925
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5367
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ARFGEF2 (morbid/RE=EA_enhancer); ZNFX1 (morbi[...]RE_gene : ARFGEF2 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.10; 0.12; 0.24; 0.20
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49210026-49218326 dbVar
po_B_loss_someG_coord : chr20:49208763-49209084 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49205673-49205972; 20:49205976-49206293
Repeat_type_left : AluSp; AluSz
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505
Repeat_type_right : L1MB5; FAM
Gap_right : .
GC_content_right : 0.390
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5367
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 5367
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7897
Nearest_SS_type : 5'
Intersect_start : 49205971
Intersect_end : 49211338
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8624
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.15; 0.20; 0.39; 0.32
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49204621-49204643 HPRC:pbsv.DEL.3719; chr20:49210026-49218326 dbVar
po_B_loss_someG_coord : chr20:49204611-49204666 dbVar; chr20:49208763-49209084 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49203378-49203480
Repeat_type_left : L1M4
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49211990-49212286
Repeat_type_right : AluJb
Gap_right : .
GC_content_right : 0.515
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8624
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 8624
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7081
Nearest_SS_type : 5'
Intersect_start : 49203530
Intersect_end : 49212154
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 34335
Gene_count : 1
fullAnnotation_mode : full
PREX1Gene_name : PREX1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 51.42
ExAC_cnvZ : -0.975991099080182
ExAC_delZ : -2.31885625557015
ExAC_dupZ : -0.23337501203107
ExAC_synZ : 0.686006138153555
ExAC_misZ : 4.3114490950255
Closest_left : LOC105372646
Closest_right : ARFGEF2
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbi[...]RE_gene : ZNFX1 (morbid/RE=EA_enhancer); ARFGEF2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881
po_P_loss_coord : 20:44356405-49982509
po_P_loss_percent : 0.61
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.555
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:48732640-48733095
Repeat_type_right : MLT1J
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 34335
splitAnnotation_mode : split
PREX1Gene_name : PREX1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 51.42
ACMG : .
ExAC_cnvZ : -0.975991099080182
ExAC_delZ : -2.31885625557015
ExAC_dupZ : -0.23337501203107
ExAC_synZ : 0.686006138153555
ExAC_misZ : 4.3114490950255
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57580
intron4-intron7Location : intron4-intron7
CytoBand : q13.13
Location2 : CDS
Tx : NM_020820
Tx_version : 4
Tx_start : 48624251
Tx_end : 48827999
Exon_count : 40
Overlapped_tx_length : 34335
Overlapped_CDS_length : 398
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 1801
Nearest_SS_type : 5'
Intersect_start : 48698409
Intersect_end : 48732744
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4018
Gene_count : 1
fullAnnotation_mode : full
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
Closest_left : NCOA3
Closest_right : LOC124904922
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.03; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:47710214-47710719 dbVar; chr20:47710218-47710717 dbVar; 20:47710219-47710717 esv3645974
po_B_loss_someG_coord : chr20:47710086-47710700 gnomAD-SV_v3_DEL_chr20_e3fe021e; 20:47710215-47710700 IMH; 20:47710219-47710717 1000g
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47706747-47706942; 20:47706945-47706980; 20:47706981-47707287
Repeat_type_left : LTR79; LTR36; AluSx
Gap_left : .
GC_content_left : 0.415
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.540
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4018
splitAnnotation_mode : split
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ACMG : .
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55959
intron3-intron3Location : intron3-intron3
CytoBand : q13.12
Location2 : CDS
Tx : NM_001387049
Tx_version : 1
Tx_start : 47657405
Tx_end : 47764428
Exon_count : 21
Overlapped_tx_length : 4018
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4357
Nearest_SS_type : 3'
Intersect_start : 47707027
Intersect_end : 47711045
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
Closest_left : NCOA3
Closest_right : LOC124904922
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47694829-47694935
Repeat_type_left : MIRc
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:47695069-47695278; 20:47695279-47695611
Repeat_type_right : MER58B; L1MB1
Gap_right : .
GC_content_right : 0.355
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ACMG : .
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55959
intron4-intron4Location : intron4-intron4
CytoBand : q13.12
Location2 : CDS
Tx : NM_001387049
Tx_version : 1
Tx_start : 47657405
Tx_end : 47764428
Exon_count : 21
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4551
Nearest_SS_type : 3'
Intersect_start : 47694846
Intersect_end : 47695346
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2081
Gene_count : 1
fullAnnotation_mode : full
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
Closest_left : NCOA3
Closest_right : LOC124904922
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.02; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:47695069-47695278; 20:47695279-47695611
Repeat_type_right : MER58B; L1MB1
Gap_right : .
GC_content_right : 0.355
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2081
splitAnnotation_mode : split
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ACMG : .
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55959
intron4-intron4Location : intron4-intron4
CytoBand : q13.12
Location2 : CDS
Tx : NM_001387049
Tx_version : 1
Tx_start : 47657405
Tx_end : 47764428
Exon_count : 21
Overlapped_tx_length : 2081
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2970
Nearest_SS_type : 3'
Intersect_start : 47693265
Intersect_end : 47695346
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28070
Gene_count : 1
fullAnnotation_mode : full
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
Closest_left : NCOA3
Closest_right : LOC124904922
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morb[...]RE_gene : SLC2A10 (morbid/RE=EA_enhancer); TP53RK (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.24; 0.50
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:47710086-47710700 gnomAD-SV_v3_DEL_chr20_e3fe021e; 20:47710215-47710700 IMH; 20:47710219-47710717 1000g;
po_B_loss_someG_coord : chr20:47703145-47706648 dbVar; chr20:47710214-47710719 dbVar; chr20:47710218-47710717 dbVar; 20:47710219-47710717 esv3645974
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47683257-47683539
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.525
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28070
splitAnnotation_mode : split
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ACMG : .
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55959
intron3-intron6Location : intron3-intron6
CytoBand : q13.12
Location2 : CDS
Tx : NM_001387049
Tx_version : 1
Tx_start : 47657405
Tx_end : 47764428
Exon_count : 21
Overlapped_tx_length : 28070
Overlapped_CDS_length : 473
Overlapped_CDS_percent : 18
Frameshift : yes
Dist_nearest_SS : 306
Nearest_SS_type : 3'
Intersect_start : 47683475
Intersect_end : 47711545
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
Closest_left : NCOA3
Closest_right : LOC124904922
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
TP53RK (morbid/RE=EA_enhancer); RE_gene : TP53RK (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47683257-47683539
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:47683755-47684171
Repeat_type_right : L1MB8
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SULF2Gene_name : SULF2;
LOEUF_bin : 2
GnomAD_pLI : 1.0585e-02
ExAC_pLI : 8.7805e-01
HI : .
TS : .
DDD_HI_percent : 35.06
ACMG : .
ExAC_cnvZ : -0.518523236340421
ExAC_delZ : -2.1340194685769
ExAC_dupZ : 0.917079281076292
ExAC_synZ : -0.0602961032654836
ExAC_misZ : 1.91655929898463
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55959
intron6-intron6Location : intron6-intron6
CytoBand : q13.12
Location2 : CDS
Tx : NM_001387049
Tx_version : 1
Tx_start : 47657405
Tx_end : 47764428
Exon_count : 21
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 306
Nearest_SS_type : 3'
Intersect_start : 47683475
Intersect_end : 47683975
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1772
Gene_count : 1
fullAnnotation_mode : full
NCOA3Gene_name : NCOA3;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 16.22
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.511158738801683
ExAC_misZ : -0.505371555325067
Closest_left : LINC01754
Closest_right : SULF2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.01; 0.01; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47632382-47632685
Repeat_type_left : AluSg
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.300
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1772
splitAnnotation_mode : split
NCOA3Gene_name : NCOA3;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 16.22
ACMG : .
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.511158738801683
ExAC_misZ : -0.505371555325067
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8202
intron8-intron10Location : intron8-intron10
CytoBand : q13.12
Location2 : CDS
Tx : NM_001174088
Tx_version : 2
Tx_start : 47501886
Tx_end : 47656872
Exon_count : 23
Overlapped_tx_length : 1772
Overlapped_CDS_length : 319
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 142
Nearest_SS_type : 5'
Intersect_start : 47632565
Intersect_end : 47634337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 473
Gene_count : 1
fullAnnotation_mode : full
NCOA3Gene_name : NCOA3;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 16.22
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.511158738801683
ExAC_misZ : -0.505371555325067
Closest_left : LINC01754
Closest_right : SULF2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47604860-47605165
Repeat_type_left : AluSc
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:47605394-47605415; 20:47605420-47605463; 20:47605534-47605832
Repeat_type_right : (TG)n; (AT)n; L1MEi
Gap_right : .
GC_content_right : 0.285
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 473
splitAnnotation_mode : split
NCOA3Gene_name : NCOA3;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 16.22
ACMG : .
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.511158738801683
ExAC_misZ : -0.505371555325067
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8202
intron2-intron2Location : intron2-intron2
CytoBand : q13.12
Location2 : 5'UTR
Tx : NM_001174087
Tx_version : 2
Tx_start : 47501886
Tx_end : 47656872
Exon_count : 23
Overlapped_tx_length : 473
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 16779
Nearest_SS_type : 3'
Intersect_start : 47604976
Intersect_end : 47605449
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 637
Gene_count : 1
fullAnnotation_mode : full
CDH22Gene_name : CDH22;
LOEUF_bin : 2
GnomAD_pLI : 4.9990e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 39.18
ExAC_cnvZ : -0.265894049980366
ExAC_delZ : -1.57826861842765
ExAC_dupZ : 0.88145142961894
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904916
Closest_right : SLC35C2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:46266030-46266050
Repeat_type_left : (TC)n
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:46266639-46266736
Repeat_type_right : MIRc
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 637
splitAnnotation_mode : split
CDH22Gene_name : CDH22;
LOEUF_bin : 2
GnomAD_pLI : 4.9990e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 39.18
ACMG : .
ExAC_cnvZ : -0.265894049980366
ExAC_delZ : -1.57826861842765
ExAC_dupZ : 0.88145142961894
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64405
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : 5'UTR
Tx : NM_021248
Tx_version : 3
Tx_start : 46173738
Tx_end : 46308498
Exon_count : 12
Overlapped_tx_length : 637
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 14447
Nearest_SS_type : 3'
Intersect_start : 46266140
Intersect_end : 46266777
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2588
Gene_count : 1
fullAnnotation_mode : full
CDH22Gene_name : CDH22;
LOEUF_bin : 2
GnomAD_pLI : 4.9990e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 39.18
ExAC_cnvZ : -0.265894049980366
ExAC_delZ : -1.57826861842765
ExAC_dupZ : 0.88145142961894
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904916
Closest_right : SLC35C2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.02; 0.02; 0.02; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:46265339-46265787
Repeat_type_left : L1ME3B
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:46267826-46268132
Repeat_type_right : LTR16
Gap_right : .
GC_content_right : 0.525
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2588
splitAnnotation_mode : split
CDH22Gene_name : CDH22;
LOEUF_bin : 2
GnomAD_pLI : 4.9990e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 39.18
ACMG : .
ExAC_cnvZ : -0.265894049980366
ExAC_delZ : -1.57826861842765
ExAC_dupZ : 0.88145142961894
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64405
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : 5'UTR
Tx : NM_021248
Tx_version : 3
Tx_start : 46173738
Tx_end : 46308498
Exon_count : 12
Overlapped_tx_length : 2588
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 13852
Nearest_SS_type : 3'
Intersect_start : 46265545
Intersect_end : 46268133
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 10786
Gene_count : 1
fullAnnotation_mode : full
CDH22Gene_name : CDH22;
LOEUF_bin : 2
GnomAD_pLI : 4.9990e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 39.18
ExAC_cnvZ : -0.265894049980366
ExAC_delZ : -1.57826861842765
ExAC_dupZ : 0.88145142961894
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904916
Closest_right : SLC35C2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.07; 0.09; 0.09; 0.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.545
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:46263191-46263235
Repeat_type_right : (ATGG)n
Gap_right : .
GC_content_right : 0.505
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 10786
splitAnnotation_mode : split
CDH22Gene_name : CDH22;
LOEUF_bin : 2
GnomAD_pLI : 4.9990e-01
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 39.18
ACMG : .
ExAC_cnvZ : -0.265894049980366
ExAC_delZ : -1.57826861842765
ExAC_dupZ : 0.88145142961894
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 64405
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : 5'UTR
Tx : NM_021248
Tx_version : 3
Tx_start : 46173738
Tx_end : 46308498
Exon_count : 12
Overlapped_tx_length : 10786
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 710
Nearest_SS_type : 3'
Intersect_start : 46252403
Intersect_end : 46263189
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
PCIF1Gene_name : PCIF1;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9996e-01
HI : .
TS : .
DDD_HI_percent : 33.86
ExAC_cnvZ : -0.754663266038326
ExAC_delZ : -2.14399435127864
ExAC_dupZ : 0.401368889845896
ExAC_synZ : -0.397716607571258
ExAC_misZ : 3.05295359715323
Closest_left : LOC107985388
Closest_right : ZNF335
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC12A5 (morbid/RE=EA_enhancer); CTSA (morbid[...]RE_gene : SLC12A5 (morbid/RE=EA_enhancer); CTSA (morbid/RE=EA_enhancer); ELMO2 (morbid/RE=EA_enhancer); MMP9 (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); CD40 (morbid/RE=EA_enhancer); TNNC2 (morbid/RE=EA_enhancer); ZNF335 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.00; 0.00; 0.02; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.625
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.545
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
PCIF1Gene_name : PCIF1;
LOEUF_bin : 0
GnomAD_pLI : 9.9999e-01
ExAC_pLI : 9.9996e-01
HI : .
TS : .
DDD_HI_percent : 33.86
ACMG : .
ExAC_cnvZ : -0.754663266038326
ExAC_delZ : -2.14399435127864
ExAC_dupZ : 0.401368889845896
ExAC_synZ : -0.397716607571258
ExAC_misZ : 3.05295359715323
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 63935
intron16-exon17Location : intron16-exon17
CytoBand : q13.12
Location2 : CDS-3'UTR
Tx : NM_022104
Tx_version : 4
Tx_start : 45934682
Tx_end : 45948020
Exon_count : 17
Overlapped_tx_length : 500
Overlapped_CDS_length : 232
Overlapped_CDS_percent : 10
Frameshift : yes
Dist_nearest_SS : 29
Nearest_SS_type : 3'
Intersect_start : 45947494
Intersect_end : 45947994
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 882
Gene_count : 1
fullAnnotation_mode : full
ZSWIM3Gene_name : ZSWIM3;
LOEUF_bin : 4
GnomAD_pLI : 5.5178e-05
ExAC_pLI : 1.4133e-03
HI : .
TS : .
DDD_HI_percent : 63.99
ExAC_cnvZ : -1.16532721795091
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.206944086529295
ExAC_synZ : 0.0195079453944113
ExAC_misZ : 0.672643115053832
Closest_left : ACOT8
Closest_right : ZSWIM1
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ZNF335 (morbid/RE=EA_enhancer); CD40 (morbid/[...]RE_gene : ZNF335 (morbid/RE=EA_enhancer); CD40 (morbid/RE=EA_enhancer); TNNC2 (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); MMP9 (morbid/RE=EA_enhancer); CTSA (morbid/RE=EA_enhancer); SLC12A5 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.01; 0.01; 0.01; 0.04; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:45867003-45867306; 20:45867307-45867669
Repeat_type_left : AluSx1; MER95
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:45867917-45868420
Repeat_type_right : Tigger18a
Gap_right : .
GC_content_right : 0.405
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 882
splitAnnotation_mode : split
ZSWIM3Gene_name : ZSWIM3;
LOEUF_bin : 4
GnomAD_pLI : 5.5178e-05
ExAC_pLI : 1.4133e-03
HI : .
TS : .
DDD_HI_percent : 63.99
ACMG : .
ExAC_cnvZ : -1.16532721795091
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.206944086529295
ExAC_synZ : 0.0195079453944113
ExAC_misZ : 0.672643115053832
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140831
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : CDS
Tx : NM_080752
Tx_version : 4
Tx_start : 45857613
Tx_end : 45879122
Exon_count : 2
Overlapped_tx_length : 882
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 8581
Nearest_SS_type : 3'
Intersect_start : 45867250
Intersect_end : 45868132
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1928
Gene_count : 1
fullAnnotation_mode : full
SNX21Gene_name : SNX21;
LOEUF_bin : 7
GnomAD_pLI : 2.3202e-07
ExAC_pLI : 2.0814e-02
HI : .
TS : .
DDD_HI_percent : 52.89
ExAC_cnvZ : -0.967376589759247
ExAC_delZ : -2.37000668610324
ExAC_dupZ : 0.330056330954614
ExAC_synZ : 0.884073841726171
ExAC_misZ : 0.740927339991328
Closest_left : TNNC2
Closest_right : ACOT8
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.01; 0.02; 0.02; 0.08; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:45839234-45839547; 20:45839548-45839608; 20:45839609-45839924
Repeat_type_left : AluY; MER113; AluJr
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.560
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1928
splitAnnotation_mode : split
SNX21Gene_name : SNX21;
LOEUF_bin : 7
GnomAD_pLI : 2.3202e-07
ExAC_pLI : 2.0814e-02
HI : .
TS : .
DDD_HI_percent : 52.89
ACMG : .
ExAC_cnvZ : -0.967376589759247
ExAC_delZ : -2.37000668610324
ExAC_dupZ : 0.330056330954614
ExAC_synZ : 0.884073841726171
ExAC_misZ : 0.740927339991328
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 90203
exon1-exon2Location : exon1-exon2
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : XM_005260608
Tx_version : 5
Tx_start : 45839479
Tx_end : 45843276
Exon_count : 2
Overlapped_tx_length : 1928
Overlapped_CDS_length : 828
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : 851
Nearest_SS_type : 5'
Intersect_start : 45839607
Intersect_end : 45841535
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
KCNS1Gene_name : KCNS1;
LOEUF_bin : 3
GnomAD_pLI : 1.1183e-01
ExAC_pLI : 3.6300e-01
HI : .
TS : .
DDD_HI_percent : 37.88
ExAC_cnvZ : -0.0788398642531181
ExAC_delZ : -0.888137588041883
ExAC_dupZ : 0.477247619417183
ExAC_synZ : 3.15383342677404
ExAC_misZ : 3.11285419851061
Closest_left : STK4
Closest_right : WFDC5
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.01; 0.01; 0.01; 0.04; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:45092739-45093020
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
KCNS1Gene_name : KCNS1;
LOEUF_bin : 3
GnomAD_pLI : 1.1183e-01
ExAC_pLI : 3.6300e-01
HI : .
TS : .
DDD_HI_percent : 37.88
ACMG : .
ExAC_cnvZ : -0.0788398642531181
ExAC_delZ : -0.888137588041883
ExAC_dupZ : 0.477247619417183
ExAC_synZ : 3.15383342677404
ExAC_misZ : 3.11285419851061
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3787
exon4-exon4Location : exon4-exon4
CytoBand : q13.12
Location2 : 3'UTR
Tx : NM_001322799
Tx_version : 2
Tx_start : 45091213
Tx_end : 45101127
Exon_count : 4
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1293
Nearest_SS_type : 3'
Intersect_start : 45093047
Intersect_end : 45094047
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 9167
Gene_count : 1
fullAnnotation_mode : full
KCNS1Gene_name : KCNS1;
LOEUF_bin : 3
GnomAD_pLI : 1.1183e-01
ExAC_pLI : 3.6300e-01
HI : .
TS : .
DDD_HI_percent : 37.88
ExAC_cnvZ : -0.0788398642531181
ExAC_delZ : -0.888137588041883
ExAC_dupZ : 0.477247619417183
ExAC_synZ : 3.15383342677404
ExAC_misZ : 3.11285419851061
Closest_left : STK4
Closest_right : WFDC5
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=[...]RE_gene : ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); STK4 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.06; 0.07; 0.08; 0.38; 0.16
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:45084617-45084824; 20:45084868-45084962
Repeat_type_left : MIRb; MLT1N2
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 9167
splitAnnotation_mode : split
KCNS1Gene_name : KCNS1;
LOEUF_bin : 3
GnomAD_pLI : 1.1183e-01
ExAC_pLI : 3.6300e-01
HI : .
TS : .
DDD_HI_percent : 37.88
ACMG : .
ExAC_cnvZ : -0.0788398642531181
ExAC_delZ : -0.888137588041883
ExAC_dupZ : 0.477247619417183
ExAC_synZ : 3.15383342677404
ExAC_misZ : 3.11285419851061
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 3787
exon4-txEndLocation : exon4-txEnd
CytoBand : q13.12
Location2 : 3'UTR
Tx : NM_001322799
Tx_version : 2
Tx_start : 45091213
Tx_end : 45101127
Exon_count : 4
Overlapped_tx_length : 2834
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1293
Nearest_SS_type : 3'
Intersect_start : 45091213
Intersect_end : 45094047
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3460
Gene_count : 1
fullAnnotation_mode : full
RIMS4Gene_name : RIMS4;
LOEUF_bin : 3
GnomAD_pLI : 2.3281e-01
ExAC_pLI : 9.5277e-01
HI : .
TS : .
DDD_HI_percent : 29.9
ExAC_cnvZ : -0.899778291349545
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.788512248137551
ExAC_synZ : 0.734442996955268
ExAC_misZ : 3.56105232323752
Closest_left : KCNK15
Closest_right : YWHAB
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=[...]RE_gene : ADA (morbid/RE=EA_enhancer); PIGT (morbid/RE=EA_enhancer); STK4 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.02; 0.03; 0.03; 0.14; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:44806966-44807023
Repeat_type_right : MIR
Gap_right : .
GC_content_right : 0.465
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3460
splitAnnotation_mode : split
RIMS4Gene_name : RIMS4;
LOEUF_bin : 3
GnomAD_pLI : 2.3281e-01
ExAC_pLI : 9.5277e-01
HI : .
TS : .
DDD_HI_percent : 29.9
ACMG : .
ExAC_cnvZ : -0.899778291349545
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.788512248137551
ExAC_synZ : 0.734442996955268
ExAC_misZ : 3.56105232323752
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140730
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : CDS
Tx : NM_001205317
Tx_version : 2
Tx_start : 44751807
Tx_end : 44810546
Exon_count : 6
Overlapped_tx_length : 3460
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3088
Nearest_SS_type : 5'
Intersect_start : 44803626
Intersect_end : 44807086
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
TOX2Gene_name : TOX2;
LOEUF_bin : 3
GnomAD_pLI : 3.1987e-02
ExAC_pLI : 6.7408e-01
HI : .
TS : .
DDD_HI_percent : 37.74
ExAC_cnvZ : -0.388796873769303
ExAC_delZ : -1.81719107302044
ExAC_dupZ : 0.910063942862999
ExAC_synZ : 0.838778443740044
ExAC_misZ : 0.711413277389895
Closest_left : LINC01728
Closest_right : JPH2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118
po_P_loss_percent : 0.00; 0.00; 0.00; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43945105-43945298; 20:43945312-43945610
Repeat_type_left : L1ME4a; L1ME3G
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
TOX2Gene_name : TOX2;
LOEUF_bin : 3
GnomAD_pLI : 3.1987e-02
ExAC_pLI : 6.7408e-01
HI : .
TS : .
DDD_HI_percent : 37.74
ACMG : .
ExAC_cnvZ : -0.388796873769303
ExAC_delZ : -1.81719107302044
ExAC_dupZ : 0.910063942862999
ExAC_synZ : 0.838778443740044
ExAC_misZ : 0.711413277389895
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84969
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : CDS
Tx : XM_047440563
Tx_version : 1
Tx_start : 43914851
Tx_end : 44066857
Exon_count : 8
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 27589
Nearest_SS_type : 3'
Intersect_start : 43945277
Intersect_end : 43945777
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
TOX2Gene_name : TOX2;
LOEUF_bin : 3
GnomAD_pLI : 3.1987e-02
ExAC_pLI : 6.7408e-01
HI : .
TS : .
DDD_HI_percent : 37.74
ExAC_cnvZ : -0.388796873769303
ExAC_delZ : -1.81719107302044
ExAC_dupZ : 0.910063942862999
ExAC_synZ : 0.838778443740044
ExAC_misZ : 0.711413277389895
Closest_left : LINC01728
Closest_right : JPH2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118
po_P_loss_percent : 0.00; 0.00; 0.00; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43933531-43933866
Repeat_type_left : LTR16A1
Gap_left : .
GC_content_left : 0.630
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43934206-43934302; 20:43934308-43934515
Repeat_type_right : L2b; MIRb
Gap_right : .
GC_content_right : 0.490
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
TOX2Gene_name : TOX2;
LOEUF_bin : 3
GnomAD_pLI : 3.1987e-02
ExAC_pLI : 6.7408e-01
HI : .
TS : .
DDD_HI_percent : 37.74
ACMG : .
ExAC_cnvZ : -0.388796873769303
ExAC_delZ : -1.81719107302044
ExAC_dupZ : 0.910063942862999
ExAC_synZ : 0.838778443740044
ExAC_misZ : 0.711413277389895
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84969
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : CDS
Tx : XM_047440563
Tx_version : 1
Tx_start : 43914851
Tx_end : 44066857
Exon_count : 8
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 18908
Nearest_SS_type : 5'
Intersect_start : 43933898
Intersect_end : 43934398
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
MYBL2Gene_name : MYBL2;
LOEUF_bin : 2
GnomAD_pLI : 1.2226e-01
ExAC_pLI : 9.9211e-01
HI : .
TS : .
DDD_HI_percent : 34.94
ExAC_cnvZ : -1.26097421273629
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.714455957882287
ExAC_synZ : 0.0591979712898836
ExAC_misZ : 1.86795081929307
Closest_left : LOC124904906
Closest_right : GTSF1L
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118
po_P_loss_percent : 0.00; 0.00; 0.00; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.530
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
MYBL2Gene_name : MYBL2;
LOEUF_bin : 2
GnomAD_pLI : 1.2226e-01
ExAC_pLI : 9.9211e-01
HI : .
TS : .
DDD_HI_percent : 34.94
ACMG : .
ExAC_cnvZ : -1.26097421273629
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.714455957882287
ExAC_synZ : 0.0591979712898836
ExAC_misZ : 1.86795081929307
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 4605
intron2-intron3Location : intron2-intron3
CytoBand : q13.12
Location2 : CDS
Tx : NM_002466
Tx_version : 4
Tx_start : 43667113
Tx_end : 43716482
Exon_count : 14
Overlapped_tx_length : 500
Overlapped_CDS_length : 72
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 120
Nearest_SS_type : 5'
Intersect_start : 43681475
Intersect_end : 43681975
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 625
Gene_count : 1
fullAnnotation_mode : full
L3MBTL1Gene_name : L3MBTL1;
LOEUF_bin : 4
GnomAD_pLI : 1.5474e-12
ExAC_pLI : 2.0785e-07
HI : .
TS : .
DDD_HI_percent : 47.47
ExAC_cnvZ : -0.556944364251767
ExAC_delZ : -2.32433485397934
ExAC_dupZ : 1.17304268593515
ExAC_synZ : 0.227950296718026
ExAC_misZ : 0.211585391689383
Closest_left : SRSF6
Closest_right : SGK2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43532191-43532283
Repeat_type_left : MIR
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.455
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 625
splitAnnotation_mode : split
L3MBTL1Gene_name : L3MBTL1;
LOEUF_bin : 4
GnomAD_pLI : 1.5474e-12
ExAC_pLI : 2.0785e-07
HI : 0
TS : 0
DDD_HI_percent : 47.47
ACMG : .
ExAC_cnvZ : -0.556944364251767
ExAC_delZ : -2.32433485397934
ExAC_dupZ : 1.17304268593515
ExAC_synZ : 0.227950296718026
ExAC_misZ : 0.211585391689383
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26013
intron11-intron12Location : intron11-intron12
CytoBand : q13.12
Location2 : CDS
Tx : NM_001377303
Tx_version : 1
Tx_start : 43507696
Tx_end : 43541895
Exon_count : 22
Overlapped_tx_length : 625
Overlapped_CDS_length : 152
Overlapped_CDS_percent : 5
Frameshift : yes
Dist_nearest_SS : 83
Nearest_SS_type : 5'
Intersect_start : 43532382
Intersect_end : 43533007
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : PTPRT-AS1
Closest_right : PTPRT-DT
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:42998783-43097209 dbVar
po_B_loss_someG_coord : chr20:42969610-43117825 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43030884-43031329
Repeat_type_left : LTR16
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43031368-43031548
Repeat_type_right : MLT1A1
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron1-intron1Location : intron1-intron1
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 145010
Nearest_SS_type : 3'
Intersect_start : 43030942
Intersect_end : 43031442
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1815
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : PTPRT-AS1
Closest_right : PTPRT-DT
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.01; 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:42998783-43097209 dbVar
po_B_loss_someG_coord : chr20:42969610-43117825 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.405
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43031368-43031548
Repeat_type_right : MLT1A1
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1815
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron1-intron1Location : intron1-intron1
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 1815
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 143695
Nearest_SS_type : 3'
Intersect_start : 43029627
Intersect_end : 43031442
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42969610-43117825; chr20:42998783-43097209
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 291
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : LOC101927159
Closest_right : LOC105372623
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42765397-42791321
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:42765397-42791321 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:42788941-42789023; 20:42789036-42789382
Repeat_type_left : Charlie5; Charlie5
Gap_left : .
GC_content_left : 0.330
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:42789036-42789382
Repeat_type_right : Charlie5
Gap_right : .
GC_content_right : 0.275
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 291
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron3-intron3Location : intron3-intron3
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 291
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1897
Nearest_SS_type : 5'
Intersect_start : 42789006
Intersect_end : 42789297
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42765397-42791321
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 791
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : LOC101927159
Closest_right : LOC105372623
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42765397-42791321
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:42765397-42791321 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:42789036-42789382
Repeat_type_right : Charlie5
Gap_right : .
GC_content_right : 0.275
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 791
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron3-intron3Location : intron3-intron3
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 791
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1897
Nearest_SS_type : 5'
Intersect_start : 42788506
Intersect_end : 42789297
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:42765397-42791321
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : LOC105372622
Closest_right : LOC105372624
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv15160825
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:42303584-42488707
po_P_loss_percent : 0.01; 0.01; 0.01; 0.54
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:42354435-42354486
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron9-intron9Location : intron9-intron9
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2268
Nearest_SS_type : 3'
Intersect_start : 42354553
Intersect_end : 42355553
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : LOC105372622
Closest_right : LOC105372624
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:42275486-42276248 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.430
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron13-intron13Location : intron13-intron13
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6664
Nearest_SS_type : 5'
Intersect_start : 42275324
Intersect_end : 42275824
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 9567
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : LOC105372622
Closest_right : LOC105372624
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv15160824
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:42232175-42274201
po_P_loss_percent : 0.06; 0.08; 0.08; 1.13
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:42222584-42223124
Repeat_type_left : MER21A
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.550
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 9567
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron15-intron15Location : intron15-intron15
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 9567
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3580
Nearest_SS_type : 5'
Intersect_start : 42223081
Intersect_end : 42232648
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (PTPRT, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 357
Gene_count : 1
fullAnnotation_mode : full
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
Closest_left : LOC105372622
Closest_right : LOC105372624
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:42165274-42165341
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.430
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 357
splitAnnotation_mode : split
PTPRTGene_name : PTPRT;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 2.38
ACMG : .
ExAC_cnvZ : -0.952055289550214
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.35899486679697
ExAC_synZ : -0.236212300349422
ExAC_misZ : 3.47960742175633
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11122
intron16-intron16Location : intron16-intron16
CytoBand : q12
Location2 : CDS
Tx : XM_047439848
Tx_version : 1
Tx_start : 42031889
Tx_end : 43189906
Exon_count : 32
Overlapped_tx_length : 357
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3452
Nearest_SS_type : 3'
Intersect_start : 42164991
Intersect_end : 42165348
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
ZHX3Gene_name : ZHX3;
LOEUF_bin : 2
GnomAD_pLI : 5.0815e-02
ExAC_pLI : 3.5442e-01
HI : .
TS : .
DDD_HI_percent : 55.23
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.621284009453946
ExAC_misZ : 0.818886261199518
Closest_left : MIR6871
Closest_right : LPIN3
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:41306275-41306472
Repeat_type_left : MIRc
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
ZHX3Gene_name : ZHX3;
LOEUF_bin : 2
GnomAD_pLI : 5.0815e-02
ExAC_pLI : 3.5442e-01
HI : .
TS : .
DDD_HI_percent : 55.23
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 0.621284009453946
ExAC_misZ : 0.818886261199518
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 23051
intron1-intron1Location : intron1-intron1
CytoBand : q12
Location2 : 5'UTR
Tx : NM_001384315
Tx_version : 1
Tx_start : 41178454
Tx_end : 41317731
Exon_count : 5
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 10107
Nearest_SS_type : 5'
Intersect_start : 41306254
Intersect_end : 41306754
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 635
Gene_count : 1
fullAnnotation_mode : full
LOC102724950Gene_name : LOC102724950;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01734
Closest_right : LOC105372614
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:39657732-39657761
Repeat_type_left : (TAA)n
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:39658156-39658322
Repeat_type_right : L1ME4a
Gap_right : .
GC_content_right : 0.275
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 635
splitAnnotation_mode : split
LOC102724950Gene_name : LOC102724950;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
exon1-intron2Location : exon1-intron2
CytoBand : q12
Location2 : UTR
Tx : XR_001754588
Tx_version : 2
Tx_start : 39655322
Tx_end : 39658440
Exon_count : 4
Overlapped_tx_length : 635
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5
Nearest_SS_type : 5'
Intersect_start : 39657710
Intersect_end : 39658345
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2378
Gene_count : 1
fullAnnotation_mode : full
RPN2Gene_name : RPN2;
LOEUF_bin : 2
GnomAD_pLI : 1.1487e-01
ExAC_pLI : 3.1677e-02
HI : .
TS : .
DDD_HI_percent : 29.64
ExAC_cnvZ : -0.908158772503518
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.33379338516744
ExAC_synZ : 0.133192379353929
ExAC_misZ : 0.149271948501769
Closest_left : MROH8
Closest_right : GHRH
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.02; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:37193633-37194255
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:37196063-37196235
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.590
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2378
splitAnnotation_mode : split
RPN2Gene_name : RPN2;
LOEUF_bin : 2
GnomAD_pLI : 1.1487e-01
ExAC_pLI : 3.1677e-02
HI : .
TS : .
DDD_HI_percent : 29.64
ACMG : .
ExAC_cnvZ : -0.908158772503518
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.33379338516744
ExAC_synZ : 0.133192379353929
ExAC_misZ : 0.149271948501769
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6185
intron2-intron2Location : intron2-intron2
CytoBand : q11.23
Location2 : CDS
Tx : NM_001135771
Tx_version : 3
Tx_start : 37179329
Tx_end : 37241619
Exon_count : 17
Overlapped_tx_length : 2378
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2924
Nearest_SS_type : 3'
Intersect_start : 37193747
Intersect_end : 37196125
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.00; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35828872-35829204
Repeat_type_right : MLT1F
Gap_right : .
GC_content_right : 0.535
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron2-intron2Location : intron2-intron2
CytoBand : q11.23
Location2 : CDS
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 13474
Nearest_SS_type : 3'
Intersect_start : 35828598
Intersect_end : 35829098
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 9729
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.06; 0.29; 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar
po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35786989-35787158
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.470
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 9729
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 9729
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4718
Nearest_SS_type : 3'
Intersect_start : 35787043
Intersect_end : 35796772
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 19432
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22-q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.13; 0.57; 0.16
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar
po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35782912-35783228
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35802656-35802959
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 19432
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron1-intron2Location : intron1-intron2
CytoBand : q11.22-q11.23
Location2 : 5'UTR-CDS
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 19432
Overlapped_CDS_length : 83
Overlapped_CDS_percent : 2
Frameshift : yes
Dist_nearest_SS : 1041
Nearest_SS_type : 5'
Intersect_start : 35783214
Intersect_end : 35802646
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 13558
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.09; 0.40; 0.11
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar
po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35782912-35783228
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13558
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 13558
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4718
Nearest_SS_type : 3'
Intersect_start : 35783214
Intersect_end : 35796772
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5534
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.04; 0.16; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35787701-35788494 dbVar;
po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35782912-35783228
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35788587-35788874
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5534
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 5534
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11135
Nearest_SS_type : 5'
Intersect_start : 35783214
Intersect_end : 35788748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.00; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35782912-35783228
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35783419-35783699; 20:35783700-35783994
Repeat_type_right : AluJo; AluSp
Gap_right : .
GC_content_right : 0.555
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11135
Nearest_SS_type : 5'
Intersect_start : 35783214
Intersect_end : 35783714
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12823
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.08; 0.38; 0.10
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35787701-35788494 dbVar;
po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35775831-35776107
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35788587-35788874
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 12823
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 12823
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3846
Nearest_SS_type : 5'
Intersect_start : 35775925
Intersect_end : 35788748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 7789
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.05; 0.23; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35775831-35776107
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35783419-35783699; 20:35783700-35783994
Repeat_type_right : AluJo; AluSp
Gap_right : .
GC_content_right : 0.555
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 7789
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 7789
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3846
Nearest_SS_type : 5'
Intersect_start : 35775925
Intersect_end : 35783714
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 30811
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.20; 0.91; 0.25
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35787701-35788494 dbVar; chr20:35791156-35799958 dbVar
po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35765777-35765910; 20:35766045-35766196
Repeat_type_left : FLAM_C; L2c
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 30811
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 24758
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4718
Nearest_SS_type : 3'
Intersect_start : 35772014
Intersect_end : 35796772
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 22787
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.15; 0.67; 0.18
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35787701-35788494 dbVar;
po_B_loss_someG_coord : chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35765777-35765910; 20:35766045-35766196
Repeat_type_left : FLAM_C; L2c
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35788587-35788874
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 22787
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 16734
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 12742
Nearest_SS_type : 3'
Intersect_start : 35772014
Intersect_end : 35788748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 31776
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818
po_P_loss_percent : 0.21; 0.94; 0.26
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35763768-35763788 HPRC:pbsv.DEL.2809; chr20:35787302-35793364 dbVar; chr20:35787860-35788621 dbVar
po_B_loss_someG_coord : chr20:35756252-35758304 dbVar; chr20:35765708-35765728 HPRC:pbsv.DEL.2810; chr20:35787701-35788494 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35756688-35756965; 20:35756969-35757095
Repeat_type_left : AluSg; FLAM_C
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35788587-35788874
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 31776
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 16734
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 12742
Nearest_SS_type : 3'
Intersect_start : 35772014
Intersect_end : 35788748
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 21070
Gene_count : 1
fullAnnotation_mode : full
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : PHF20
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.14; 0.62; 0.17; 1.76
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar;
po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35736655-35736950
Repeat_type_left : AluSc
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35757910-35757998
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.335
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 21070
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron3Location : txStart-intron3
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 5510
Overlapped_CDS_length : 101
Overlapped_CDS_percent : 6
Frameshift : yes
Dist_nearest_SS : 2217
Nearest_SS_type : 5'
Intersect_start : 35736750
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12911
Gene_count : 1
fullAnnotation_mode : full
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : PHF20
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.08; 0.38; 0.10; 1.76
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35736655-35736950
Repeat_type_left : AluSc
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040
Repeat_type_right : AluJr; AluSq
Gap_right : .
GC_content_right : 0.320
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12911
Gene_count : 1
fullAnnotation_mode : full
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : PHF20
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.08; 0.38; 0.10; 1.76
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35736655-35736950
Repeat_type_left : AluSc
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040
Repeat_type_right : AluJr; AluSq
Gap_right : .
GC_content_right : 0.320
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 12911
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron3Location : txStart-intron3
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 5510
Overlapped_CDS_length : 101
Overlapped_CDS_percent : 6
Frameshift : yes
Dist_nearest_SS : 2217
Nearest_SS_type : 5'
Intersect_start : 35736750
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 12911
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron3Location : txStart-intron3
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 5510
Overlapped_CDS_length : 101
Overlapped_CDS_percent : 6
Frameshift : yes
Dist_nearest_SS : 2217
Nearest_SS_type : 5'
Intersect_start : 35736750
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 27005
Gene_count : 1
fullAnnotation_mode : full
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : PHF20
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.17; 0.80; 0.22; 3.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35754861-35755422 gnomAD-SV_v3_DEL_chr20_3cc306bf; chr20:35755361-35755422 dbVar;
po_B_loss_someG_coord : chr20:35749852-35755205 dbVar; chr20:35755357-35755409 HPRC:pbsv.DEL.2808; chr20:35756252-35758304 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35757910-35757998
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.335
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 27005
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron4Location : txStart-intron4
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 11445
Overlapped_CDS_length : 296
Overlapped_CDS_percent : 19
Frameshift : yes
Dist_nearest_SS : 1125
Nearest_SS_type : 5'
Intersect_start : 35730815
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 18846
Gene_count : 1
fullAnnotation_mode : full
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : PHF20
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.12; 0.56; 0.15; 3.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040
Repeat_type_right : AluJr; AluSq
Gap_right : .
GC_content_right : 0.320
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 18846
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
txStart-intron4Location : txStart-intron4
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 11445
Overlapped_CDS_length : 296
Overlapped_CDS_percent : 19
Frameshift : yes
Dist_nearest_SS : 1125
Nearest_SS_type : 5'
Intersect_start : 35730815
Intersect_end : 35742260
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8092
Gene_count : 1
fullAnnotation_mode : full
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
Closest_left : LOC124904980
Closest_right : PHF20
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.05; 0.24; 0.07; 1.76
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.320
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.415
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8092
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
intron3-intron4Location : intron3-intron4
CytoBand : q11.22
Location2 : CDS
Tx : NM_001242599
Tx_version : 2
Tx_start : 35701346
Tx_end : 35742260
Exon_count : 16
Overlapped_tx_length : 8092
Overlapped_CDS_length : 195
Overlapped_CDS_percent : 12
Frameshift : no
Dist_nearest_SS : 60
Nearest_SS_type : 5'
Intersect_start : 35730815
Intersect_end : 35738907
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
UQCC1Gene_name : UQCC1;
LOEUF_bin : 5
GnomAD_pLI : 3.1978e-08
ExAC_pLI : 4.8544e-03
HI : .
TS : .
DDD_HI_percent : 27.71
ExAC_cnvZ : -1.02249630316542
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21814111501635
ExAC_synZ : 1.05715767023794
ExAC_misZ : 0.903797652213651
Closest_left : FAM83C
Closest_right : GDF5-AS1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.00; 0.02; 0.01; 0.13; 0.00; 0.11
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35386995-35387312
Repeat_type_right : AluSz6
Gap_right : .
GC_content_right : 0.470
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
UQCC1Gene_name : UQCC1;
LOEUF_bin : 5
GnomAD_pLI : 3.1978e-08
ExAC_pLI : 4.8544e-03
HI : .
TS : .
DDD_HI_percent : 27.71
ACMG : .
ExAC_cnvZ : -1.02249630316542
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21814111501635
ExAC_synZ : 1.05715767023794
ExAC_misZ : 0.903797652213651
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55245
intron2-intron2Location : intron2-intron2
CytoBand : q11.22
Location2 : 5'UTR
Tx : XM_011528880
Tx_version : 3
Tx_start : 35302577
Tx_end : 35410279
Exon_count : 10
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2629
Nearest_SS_type : 3'
Intersect_start : 35386762
Intersect_end : 35387262
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 7279
Gene_count : 1
fullAnnotation_mode : full
UQCC1Gene_name : UQCC1;
LOEUF_bin : 5
GnomAD_pLI : 3.1978e-08
ExAC_pLI : 4.8544e-03
HI : .
TS : .
DDD_HI_percent : 27.71
ExAC_cnvZ : -1.02249630316542
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21814111501635
ExAC_synZ : 1.05715767023794
ExAC_misZ : 0.903797652213651
Closest_left : FAM83C
Closest_right : GDF5-AS1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.05; 0.24; 0.21; 1.88; 0.06; 1.59
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35383594-35383863; 20:35383873-35384013
Repeat_type_left : AluJr4; MIRc
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35390922-35391221
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.480
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 7279
splitAnnotation_mode : split
UQCC1Gene_name : UQCC1;
LOEUF_bin : 5
GnomAD_pLI : 3.1978e-08
ExAC_pLI : 4.8544e-03
HI : .
TS : .
DDD_HI_percent : 27.71
ACMG : .
ExAC_cnvZ : -1.02249630316542
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21814111501635
ExAC_synZ : 1.05715767023794
ExAC_misZ : 0.903797652213651
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55245
intron2-intron3Location : intron2-intron3
CytoBand : q11.22
Location2 : CDS
Tx : NM_018244
Tx_version : 5
Tx_start : 35302577
Tx_end : 35411973
Exon_count : 10
Overlapped_tx_length : 7279
Overlapped_CDS_length : 96
Overlapped_CDS_percent : 10
Frameshift : no
Dist_nearest_SS : 204
Nearest_SS_type : 5'
Intersect_start : 35383833
Intersect_end : 35391112
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 106929
Gene_count : 1
fullAnnotation_mode : full
UQCC1Gene_name : UQCC1;
LOEUF_bin : 5
GnomAD_pLI : 3.1978e-08
ExAC_pLI : 4.8544e-03
HI : .
TS : .
DDD_HI_percent : 27.71
ExAC_cnvZ : -1.02249630316542
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21814111501635
ExAC_synZ : 1.05715767023794
ExAC_misZ : 0.903797652213651
Closest_left : FAM83C
Closest_right : GDF5-AS1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.69; 3.45; 3.15; 27.66; 0.86; 23.29
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35322277-35322369 dbVar; chr20:35357646-35358308 dbVar; chr20:35393752-35393806 dbVar
po_B_loss_someG_coord : chr20:35309417-35315846 dbVar; chr20:35343547-35344221 dbVar; chr20:35393746-35393807 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35293195-35293249; 20:35293269-35293578
Repeat_type_left : MER5A; AluJr
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35399926-35400220
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.580
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 106929
splitAnnotation_mode : split
UQCC1Gene_name : UQCC1;
LOEUF_bin : 5
GnomAD_pLI : 3.1978e-08
ExAC_pLI : 4.8544e-03
HI : .
TS : .
DDD_HI_percent : 27.71
ACMG : .
ExAC_cnvZ : -1.02249630316542
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21814111501635
ExAC_synZ : 1.05715767023794
ExAC_misZ : 0.903797652213651
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55245
intron1-txEndLocation : intron1-txEnd
CytoBand : q11.22
Location2 : CDS-3'UTR
Tx : XM_011528877
Tx_version : 2
Tx_start : 35302577
Tx_end : 35411973
Exon_count : 11
Overlapped_tx_length : 97549
Overlapped_CDS_length : 918
Overlapped_CDS_percent : 97
Frameshift : no
Dist_nearest_SS : 5930
Nearest_SS_type : 3'
Intersect_start : 35302577
Intersect_end : 35400126
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 197
Gene_count : 1
fullAnnotation_mode : full
TRPC4APGene_name : TRPC4AP;
LOEUF_bin : 1
GnomAD_pLI : 5.5209e-01
ExAC_pLI : 9.9954e-01
HI : .
TS : .
DDD_HI_percent : 28.34
ExAC_cnvZ : -1.03997955418994
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.531012113367853
ExAC_synZ : 0.104534239779587
ExAC_misZ : 1.3994378536155
Closest_left : MIR499B
Closest_right : EDEM2
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=[...]RE_gene : GSS (morbid/RE=EA_enhancer); PIGU (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15122688
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35051856-35438457
po_P_loss_percent : 0.00; 0.01; 0.01; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35090812-35090978; 20:35091051-35091268
Repeat_type_left : MIRb; AluSz6
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35091051-35091268
Repeat_type_right : AluSz6
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 197
splitAnnotation_mode : split
TRPC4APGene_name : TRPC4AP;
LOEUF_bin : 1
GnomAD_pLI : 5.5209e-01
ExAC_pLI : 9.9954e-01
HI : .
TS : .
DDD_HI_percent : 28.34
ACMG : .
ExAC_cnvZ : -1.03997955418994
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.531012113367853
ExAC_synZ : 0.104534239779587
ExAC_misZ : 1.3994378536155
GenCC_disease : hypothyroidism
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 26133
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_015638
Tx_version : 3
Tx_start : 35002403
Tx_end : 35092807
Exon_count : 19
Overlapped_tx_length : 197
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1361
Nearest_SS_type : 5'
Intersect_start : 35091055
Intersect_end : 35091252
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 618
Gene_count : 1
fullAnnotation_mode : full
NECAB3Gene_name : NECAB3;
LOEUF_bin : 4
GnomAD_pLI : 2.7510e-05
ExAC_pLI : 7.9763e-01
HI : .
TS : .
DDD_HI_percent : 61.33
ExAC_cnvZ : -1.03962796040024
ExAC_delZ : -2.18944272148002
ExAC_dupZ : -0.0982240144466943
ExAC_synZ : -0.000213341846980699
ExAC_misZ : 0.830805832020282
Closest_left : CBFA2T2
Closest_right : C20orf144
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.00; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.610
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33657493-33657591
Repeat_type_right : MIR3
Gap_right : .
GC_content_right : 0.670
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 618
splitAnnotation_mode : split
NECAB3Gene_name : NECAB3;
LOEUF_bin : 4
GnomAD_pLI : 2.7510e-05
ExAC_pLI : 7.9763e-01
HI : .
TS : .
DDD_HI_percent : 61.33
ACMG : .
ExAC_cnvZ : -1.03962796040024
ExAC_delZ : -2.18944272148002
ExAC_dupZ : -0.0982240144466943
ExAC_synZ : -0.000213341846980699
ExAC_misZ : 0.830805832020282
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 63941
exon9-txEndLocation : exon9-txEnd
CytoBand : q11.22
Location2 : 3'UTR
Tx : XM_017028016
Tx_version : 2
Tx_start : 33657086
Tx_end : 33662181
Exon_count : 9
Overlapped_tx_length : 379
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 392
Nearest_SS_type : 3'
Intersect_start : 33657086
Intersect_end : 33657465
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6536
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.04; 0.21; 0.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33586676-33597548 dbVar;
po_B_loss_someG_coord : chr20:33586659-33597547 dbVar; chr20:33590169-33590317 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33583911-33584247
Repeat_type_left : AluSx1
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6536
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 6536
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 16522
Nearest_SS_type : 3'
Intersect_start : 33583897
Intersect_end : 33590433
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11716
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.08; 0.38; 0.35
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33586676-33597548 dbVar;
po_B_loss_someG_coord : chr20:33586659-33597547 dbVar; chr20:33590169-33590317 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11716
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 11716
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 16522
Nearest_SS_type : 3'
Intersect_start : 33578717
Intersect_end : 33590433
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2545
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.02; 0.08; 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33577731-33577791
Repeat_type_right : MIRc
Gap_right : .
GC_content_right : 0.340
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2545
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 2545
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 29186
Nearest_SS_type : 3'
Intersect_start : 33575224
Intersect_end : 33577769
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4141
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.03; 0.13; 0.12
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33569900-33570010; 20:33570011-33570302
Repeat_type_left : FRAM; AluSx
Gap_left : .
GC_content_left : 0.545
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33573795-33574083
Repeat_type_right : AluJb
Gap_right : .
GC_content_right : 0.430
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4141
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 4141
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 32804
Nearest_SS_type : 3'
Intersect_start : 33570010
Intersect_end : 33574151
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11051
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.07; 0.36; 0.33
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.355
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11051
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron2Location : intron1-intron2
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_005093
Tx_version : 4
Tx_start : 33562341
Tx_end : 33650030
Exon_count : 12
Overlapped_tx_length : 11051
Overlapped_CDS_length : 61
Overlapped_CDS_percent : 3
Frameshift : yes
Dist_nearest_SS : 3731
Nearest_SS_type : 5'
Intersect_start : 33566941
Intersect_end : 33577992
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 10828
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.07; 0.35; 0.32
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33577731-33577791
Repeat_type_right : MIRc
Gap_right : .
GC_content_right : 0.340
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 10828
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron2Location : intron1-intron2
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_005093
Tx_version : 4
Tx_start : 33562341
Tx_end : 33650030
Exon_count : 12
Overlapped_tx_length : 10828
Overlapped_CDS_length : 61
Overlapped_CDS_percent : 3
Frameshift : yes
Dist_nearest_SS : 3508
Nearest_SS_type : 5'
Intersect_start : 33566941
Intersect_end : 33577769
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8283
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.05; 0.27; 0.24
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.360
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8283
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron2Location : intron1-intron2
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_005093
Tx_version : 4
Tx_start : 33562341
Tx_end : 33650030
Exon_count : 12
Overlapped_tx_length : 8283
Overlapped_CDS_length : 61
Overlapped_CDS_percent : 3
Frameshift : yes
Dist_nearest_SS : 963
Nearest_SS_type : 5'
Intersect_start : 33566941
Intersect_end : 33575224
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6241
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.04; 0.20; 0.18
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33573081-33573420
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.330
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6241
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 6241
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 33773
Nearest_SS_type : 3'
Intersect_start : 33566941
Intersect_end : 33573182
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6113
Gene_count : 1
fullAnnotation_mode : full
CDK5RAP1Gene_name : CDK5RAP1;
LOEUF_bin : 7
GnomAD_pLI : 7.7821e-19
ExAC_pLI : 1.0782e-14
HI : .
TS : .
DDD_HI_percent : 44.19
ExAC_cnvZ : -1.60755026988647
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.622675214852052
ExAC_synZ : 0.0300239017512713
ExAC_misZ : 0.685508174777312
Closest_left : LOC105372594
Closest_right : LOC124904889
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.04; 0.20
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33364189-33364486
Repeat_type_left : AluSg7
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.530
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6113
splitAnnotation_mode : split
CDK5RAP1Gene_name : CDK5RAP1;
LOEUF_bin : 7
GnomAD_pLI : 7.7821e-19
ExAC_pLI : 1.0782e-14
HI : .
TS : .
DDD_HI_percent : 44.19
ACMG : .
ExAC_cnvZ : -1.60755026988647
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.622675214852052
ExAC_synZ : 0.0300239017512713
ExAC_misZ : 0.685508174777312
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51654
intron7-intron8Location : intron7-intron8
CytoBand : q11.21
Location2 : CDS
Tx : XM_024451895
Tx_version : 2
Tx_start : 33358838
Tx_end : 33392159
Exon_count : 10
Overlapped_tx_length : 6113
Overlapped_CDS_length : 150
Overlapped_CDS_percent : 12
Frameshift : no
Dist_nearest_SS : 41
Nearest_SS_type : 5'
Intersect_start : 33364344
Intersect_end : 33370457
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 595
Gene_count : 1
fullAnnotation_mode : full
BPIFB3Gene_name : BPIFB3;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 72.06
ExAC_cnvZ : -1.5926808300207
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.247525500012051
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.676082883446531
Closest_left : BPIFB6
Closest_right : BPIFB4
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.00; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.625
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33054316-33054667
Repeat_type_right : L2c
Gap_right : .
GC_content_right : 0.450
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 595
splitAnnotation_mode : split
BPIFB3Gene_name : BPIFB3;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 72.06
ACMG : .
ExAC_cnvZ : -1.5926808300207
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.247525500012051
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.676082883446531
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 359710
txStart-intron1Location : txStart-intron1
CytoBand : q11.21
Location2 : 5'UTR
Tx : NM_001376932
Tx_version : 3
Tx_start : 33053902
Tx_end : 33073847
Exon_count : 16
Overlapped_tx_length : 571
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 508
Nearest_SS_type : 5'
Intersect_start : 33053902
Intersect_end : 33054473
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4091
Gene_count : 1
fullAnnotation_mode : full
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
Closest_left : ABALON
Closest_right : MYLK2
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:31789078-31789351
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.400
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4091
splitAnnotation_mode : split
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ACMG : .
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
GenCC_disease : Tourette syndrome
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 22974
intron12-intron13Location : intron12-intron13
CytoBand : q11.21
Location2 : CDS
Tx : NM_012112
Tx_version : 5
Tx_start : 31739289
Tx_end : 31801800
Exon_count : 18
Overlapped_tx_length : 4091
Overlapped_CDS_length : 96
Overlapped_CDS_percent : 4
Frameshift : no
Dist_nearest_SS : 347
Nearest_SS_type : 5'
Intersect_start : 31789086
Intersect_end : 31793177
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6308
Gene_count : 1
fullAnnotation_mode : full
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
Closest_left : ABALON
Closest_right : MYLK2
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.400
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6308
splitAnnotation_mode : split
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ACMG : .
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
GenCC_disease : Tourette syndrome
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 22974
intron12-intron13Location : intron12-intron13
CytoBand : q11.21
Location2 : CDS
Tx : NM_012112
Tx_version : 5
Tx_start : 31739289
Tx_end : 31801800
Exon_count : 18
Overlapped_tx_length : 6308
Overlapped_CDS_length : 96
Overlapped_CDS_percent : 4
Frameshift : no
Dist_nearest_SS : 347
Nearest_SS_type : 5'
Intersect_start : 31786869
Intersect_end : 31793177
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3848
Gene_count : 1
fullAnnotation_mode : full
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
Closest_left : ABALON
Closest_right : MYLK2
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:31790241-31790654; 20:31790713-31791208
Repeat_type_right : MARNA; L2c
Gap_right : .
GC_content_right : 0.415
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3848
splitAnnotation_mode : split
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ACMG : .
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
GenCC_disease : Tourette syndrome
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 22974
intron12-intron12Location : intron12-intron12
CytoBand : q11.21
Location2 : CDS
Tx : NM_012112
Tx_version : 5
Tx_start : 31739289
Tx_end : 31801800
Exon_count : 18
Overlapped_tx_length : 3848
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2017
Nearest_SS_type : 3'
Intersect_start : 31786869
Intersect_end : 31790717
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
Closest_left : ABALON
Closest_right : MYLK2
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:31755498-31755780
Repeat_type_left : AluSx1
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:31756095-31756148; 20:31756152-31756177; 20:31756178-31756401
Repeat_type_right : L2c; (GATG)n; L2c
Gap_right : .
GC_content_right : 0.350
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
TPX2Gene_name : TPX2;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 9.9212e-01
HI : .
TS : .
DDD_HI_percent : 16.69
ACMG : .
ExAC_cnvZ : -0.0146908567638964
ExAC_delZ : 0.761777252101235
ExAC_dupZ : -0.42739125676598
ExAC_synZ : -0.996576236619267
ExAC_misZ : -0.0932772109761528
GenCC_disease : Tourette syndrome
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : .
NCBI_gene_ID : 22974
intron2-intron2Location : intron2-intron2
CytoBand : q11.21
Location2 : 5'UTR
Tx : NM_012112
Tx_version : 5
Tx_start : 31739289
Tx_end : 31801800
Exon_count : 18
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1193
Nearest_SS_type : 3'
Intersect_start : 31755713
Intersect_end : 31756213
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2216
Gene_count : 1
fullAnnotation_mode : full
LOC105372582Gene_name : LOC105372582;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107985400
Closest_right : FAM182B
.Location : .
CytoBand : p11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664
po_P_loss_coord : 20:18520274-25866684
po_P_loss_percent : 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:25752457-25756137; 20:25752457-25777418; 20:25752457-25797121; 20:25752457-25799194; 20:25752457-25845152; 20:25752460-25786934; 20:25752460-25786934; 20:25753506-25786367; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798
Repeat_coord_left : 20:25753594-25754668
Repeat_type_left : L1MB7
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:25752457-25756137; 20:25752457-25777418; 20:25752457-25797121; 20:25752457-25799194; 20:25752457-25845152; 20:25752460-25786934; 20:25752460-25786934; 20:25753506-25786367; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25756106-25768377
Repeat_coord_right : 20:25756087-25756394
Repeat_type_right : AluY
Gap_right : .
GC_content_right : 0.530
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2216
splitAnnotation_mode : split
LOC105372582Gene_name : LOC105372582;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
exon2-txEndLocation : exon2-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : NR_135006
Tx_version : 1
Tx_start : 25751207
Tx_end : 25756050
Exon_count : 2
Overlapped_tx_length : 2068
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1420
Nearest_SS_type : 3'
Intersect_start : 25753982
Intersect_end : 25756050
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
ENTPD6Gene_name : ENTPD6;
LOEUF_bin : 4
GnomAD_pLI : 1.1814e-06
ExAC_pLI : 4.9899e-05
HI : .
TS : .
DDD_HI_percent : 74.06
ExAC_cnvZ : -0.572086725988312
ExAC_delZ : 0.977902329665458
ExAC_dupZ : -1.13513219843915
ExAC_synZ : 0.688667078317056
ExAC_misZ : 0.505000665689916
Closest_left : LOC101926889
Closest_right : LOC105372579
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664
po_P_loss_coord : 20:18520274-25866684
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:25198869-25199068
Repeat_type_left : L2
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:25199487-25200499
Repeat_type_right : L1MB3
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
ENTPD6Gene_name : ENTPD6;
LOEUF_bin : 4
GnomAD_pLI : 1.1814e-06
ExAC_pLI : 4.9899e-05
HI : .
TS : .
DDD_HI_percent : 74.06
ACMG : .
ExAC_cnvZ : -0.572086725988312
ExAC_delZ : 0.977902329665458
ExAC_dupZ : -1.13513219843915
ExAC_synZ : 0.688667078317056
ExAC_misZ : 0.505000665689916
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 955
intron1-intron1Location : intron1-intron1
CytoBand : p11.21
Location2 : 5'UTR
Tx : XM_047440599
Tx_version : 1
Tx_start : 25195711
Tx_end : 25224089
Exon_count : 13
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3067
Nearest_SS_type : 5'
Intersect_start : 25198934
Intersect_end : 25199434
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2156
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.02; 0.06; 0.03; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21336178-21336476; 20:21336565-21337637
Repeat_type_left : AluSx1; L2a
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.285
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2156
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron13-intron13Location : intron13-intron13
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 2156
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 421
Nearest_SS_type : 3'
Intersect_start : 21336466
Intersect_end : 21338622
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.00; 0.01; 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21329857-21329898
Repeat_type_left : (GT)n
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21330001-21330286; 20:21330287-21330305
Repeat_type_right : AluSx1; (TAA)n
Gap_right : .
GC_content_right : 0.450
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron4-intron4Location : intron4-intron4
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 205
Nearest_SS_type : 3'
Intersect_start : 21329775
Intersect_end : 21330275
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 14229
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.11; 0.39; 0.19; 0.49
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21310728-21311050
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.555
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21324814-21325149
Repeat_type_right : L1MB7
Gap_right : .
GC_content_right : 0.320
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 14229
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron1-intron1Location : intron1-intron1
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 14229
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1182
Nearest_SS_type : 3'
Intersect_start : 21310867
Intersect_end : 21325096
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 9063
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.07; 0.25; 0.12; 0.31
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21310728-21311050
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.555
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21319787-21320203
Repeat_type_right : L1MB8
Gap_right : .
GC_content_right : 0.300
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 9063
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron1-intron1Location : intron1-intron1
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 9063
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6348
Nearest_SS_type : 3'
Intersect_start : 21310867
Intersect_end : 21319930
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4206
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.03; 0.12; 0.06; 0.15
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21310728-21311050
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.555
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21314785-21315315
Repeat_type_right : MER70A
Gap_right : .
GC_content_right : 0.525
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4206
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron1-intron1Location : intron1-intron1
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 4206
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7394
Nearest_SS_type : 5'
Intersect_start : 21310867
Intersect_end : 21315073
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1471
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.01; 0.04; 0.02; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21310728-21311050
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.555
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21312115-21312393; 20:21312394-21312452
Repeat_type_right : AluYh3; L1ME1
Gap_right : .
GC_content_right : 0.445
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1471
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron1-intron1Location : intron1-intron1
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 1471
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7394
Nearest_SS_type : 5'
Intersect_start : 21310867
Intersect_end : 21312338
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5783
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.04; 0.16; 0.08; 0.20
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:20612004-20621006 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20621471-20621521; 20:20621522-20621541
Repeat_type_right : (TTTCC)n; (TTTC)n
Gap_right : .
GC_content_right : 0.300
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5783
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron10-intron13Location : intron10-intron13
CytoBand : p11.23
Location2 : CDS
Tx : NM_020343
Tx_version : 4
Tx_start : 20389529
Tx_end : 20712644
Exon_count : 40
Overlapped_tx_length : 5783
Overlapped_CDS_length : 455
Overlapped_CDS_percent : 8
Frameshift : yes
Dist_nearest_SS : 232
Nearest_SS_type : 5'
Intersect_start : 20615810
Intersect_end : 20621593
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11838
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.09; 0.32; 0.16; 0.41
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:20612004-20621006 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.570
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20621471-20621521; 20:20621522-20621541
Repeat_type_right : (TTTCC)n; (TTTC)n
Gap_right : .
GC_content_right : 0.300
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11838
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron10-intron14Location : intron10-intron14
CytoBand : p11.23
Location2 : CDS
Tx : NM_020343
Tx_version : 4
Tx_start : 20389529
Tx_end : 20712644
Exon_count : 40
Overlapped_tx_length : 11838
Overlapped_CDS_length : 567
Overlapped_CDS_percent : 10
Frameshift : no
Dist_nearest_SS : 963
Nearest_SS_type : 3'
Intersect_start : 20609755
Intersect_end : 20621593
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8500
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.06; 0.23; 0.12; 0.29
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:20612004-20621006 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.570
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20617958-20618157
Repeat_type_right : MER6B
Gap_right : .
GC_content_right : 0.470
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8500
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron12-intron14Location : intron12-intron14
CytoBand : p11.23
Location2 : CDS
Tx : NM_020343
Tx_version : 4
Tx_start : 20389529
Tx_end : 20712644
Exon_count : 40
Overlapped_tx_length : 8500
Overlapped_CDS_length : 261
Overlapped_CDS_percent : 4
Frameshift : no
Dist_nearest_SS : 1021
Nearest_SS_type : 5'
Intersect_start : 20609755
Intersect_end : 20618255
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 35950
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.27; 0.98; 0.49; 1.24
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar; chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar
po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec; 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20527416-20527770
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.530
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 35950
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.27; 0.98; 0.49; 1.24
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar; chr20:20496117-20496178 dbVar; chr20:20522296-20522407 dbVar
po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec; 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20527416-20527770
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.530
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 35950
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron13-intron22Location : intron13-intron22
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 35950
Overlapped_CDS_length : 1785
Overlapped_CDS_percent : 45
Frameshift : no
Dist_nearest_SS : 1234
Nearest_SS_type : 3'
Intersect_start : 20491646
Intersect_end : 20527596
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 35950
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron13-intron22Location : intron13-intron22
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 35950
Overlapped_CDS_length : 1785
Overlapped_CDS_percent : 45
Frameshift : no
Dist_nearest_SS : 1234
Nearest_SS_type : 3'
Intersect_start : 20491646
Intersect_end : 20527596
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 25902
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.19; 0.71; 0.35; 0.89
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:20496117-20496178 dbVar;
po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20516882-20518061
Repeat_type_right : L1PBb
Gap_right : .
GC_content_right : 0.430
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 25902
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron17-intron22Location : intron17-intron22
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 25902
Overlapped_CDS_length : 1283
Overlapped_CDS_percent : 32
Frameshift : yes
Dist_nearest_SS : 3368
Nearest_SS_type : 5'
Intersect_start : 20491646
Intersect_end : 20517548
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 10163
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.08; 0.28; 0.14; 0.35
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:20496117-20496178 dbVar;
po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20500001-20502234
Repeat_type_right : Tigger1
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 10163
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron21-intron22Location : intron21-intron22
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 10163
Overlapped_CDS_length : 159
Overlapped_CDS_percent : 4
Frameshift : no
Dist_nearest_SS : 1541
Nearest_SS_type : 5'
Intersect_start : 20491646
Intersect_end : 20501809
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 33805
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.25; 0.93; 0.46; 1.17
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:20496117-20496178 dbVar;
po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20516882-20518061
Repeat_type_right : L1PBb
Gap_right : .
GC_content_right : 0.430
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 33805
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron17-intron22Location : intron17-intron22
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 33805
Overlapped_CDS_length : 1283
Overlapped_CDS_percent : 32
Frameshift : yes
Dist_nearest_SS : 3368
Nearest_SS_type : 5'
Intersect_start : 20483743
Intersect_end : 20517548
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 23401
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.17; 0.64; 0.32; 0.81
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:20496117-20496178 dbVar;
po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20507111-20507165
Repeat_type_right : L1MB4
Gap_right : .
GC_content_right : 0.260
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 23401
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron19-intron22Location : intron19-intron22
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 23401
Overlapped_CDS_length : 439
Overlapped_CDS_percent : 11
Frameshift : yes
Dist_nearest_SS : 1610
Nearest_SS_type : 3'
Intersect_start : 20483743
Intersect_end : 20507144
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 18066
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.13; 0.49; 0.25; 0.62
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:20496117-20496178 dbVar;
po_B_loss_someG_coord : 20:20496117-20496178 1000g; chr20:20496117-20496178 gnomAD-SV_v3_DEL_chr20_74d0fbec
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20500001-20502234
Repeat_type_right : Tigger1
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 18066
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron21-intron22Location : intron21-intron22
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 18066
Overlapped_CDS_length : 159
Overlapped_CDS_percent : 4
Frameshift : no
Dist_nearest_SS : 1541
Nearest_SS_type : 5'
Intersect_start : 20483743
Intersect_end : 20501809
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.00; 0.01; 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.580
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.495
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
exon25-exon25Location : exon25-exon25
CytoBand : p11.23
Location2 : 3'UTR
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 334
Nearest_SS_type : 3'
Intersect_start : 20392419
Intersect_end : 20392919
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 15832
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.12; 0.43; 0.22; 0.55
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:20376901-20377111
Repeat_type_left : MER58A
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.495
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 15832
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
exon25-txEndLocation : exon25-txEnd
CytoBand : p11.23
Location2 : 3'UTR
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 3390
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 334
Nearest_SS_type : 3'
Intersect_start : 20389529
Intersect_end : 20392919
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6131
Gene_count : 1
fullAnnotation_mode : full
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LOC124904877
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.05; 0.17
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:18442796-18454470 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18449556-18449785; 20:18449797-18450077
Repeat_type_left : AluSx1; AluSp
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18455536-18456095
Repeat_type_right : MLT1G
Gap_right : .
GC_content_right : 0.430
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6131
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron3-intron6Location : intron3-intron6
CytoBand : p11.23
Location2 : CDS
Tx : NM_001351683
Tx_version : 4
Tx_start : 18383366
Tx_end : 18467030
Exon_count : 21
Overlapped_tx_length : 6131
Overlapped_CDS_length : 337
Overlapped_CDS_percent : 14
Frameshift : yes
Dist_nearest_SS : 606
Nearest_SS_type : 3'
Intersect_start : 18449836
Intersect_end : 18455967
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2016
Gene_count : 1
fullAnnotation_mode : full
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LOC124904877
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.01; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:18435052-18435114 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18433981-18434090; 20:18434201-18434262
Repeat_type_left : L1MA5A; L1M4a2
Gap_left : .
GC_content_left : 0.220
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18435833-18436309
Repeat_type_right : L1M4a2
Gap_right : .
GC_content_right : 0.315
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2016
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron1-intron1Location : intron1-intron1
CytoBand : p11.23
Location2 : CDS
Tx : XM_017027921
Tx_version : 3
Tx_start : 18383366
Tx_end : 18442927
Exon_count : 14
Overlapped_tx_length : 2016
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 358
Nearest_SS_type : 3'
Intersect_start : 18434123
Intersect_end : 18436139
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LOC124904877
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18433981-18434090; 20:18434201-18434262
Repeat_type_left : L1MA5A; L1M4a2
Gap_left : .
GC_content_left : 0.220
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18434263-18434567; 20:18434568-18435311
Repeat_type_right : AluSx1; L1M4a2
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron1-intron1Location : intron1-intron1
CytoBand : p11.23
Location2 : CDS
Tx : XM_017027921
Tx_version : 3
Tx_start : 18383366
Tx_end : 18442927
Exon_count : 14
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 358
Nearest_SS_type : 3'
Intersect_start : 18434123
Intersect_end : 18434623
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6763
Gene_count : 1
fullAnnotation_mode : full
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LOC124904877
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.05; 0.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:18435052-18435114 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18429164-18429426; 20:18429427-18429631
Repeat_type_left : MER110; L1MC1
Gap_left : .
GC_content_left : 0.390
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18435833-18436309
Repeat_type_right : L1M4a2
Gap_right : .
GC_content_right : 0.315
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 6763
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron1-intron2Location : intron1-intron2
CytoBand : p11.23
Location2 : CDS
Tx : XM_017027921
Tx_version : 3
Tx_start : 18383366
Tx_end : 18442927
Exon_count : 14
Overlapped_tx_length : 6763
Overlapped_CDS_length : 114
Overlapped_CDS_percent : 7
Frameshift : no
Dist_nearest_SS : 2217
Nearest_SS_type : 3'
Intersect_start : 18429376
Intersect_end : 18436139
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28680
Gene_count : 1
fullAnnotation_mode : full
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LOC124904877
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789
po_P_loss_percent : 0.21; 0.78
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:18435052-18435114 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18405221-18408033
Repeat_type_left : L1M1
Gap_left : .
GC_content_left : 0.460
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18435833-18436309
Repeat_type_right : L1M4a2
Gap_right : .
GC_content_right : 0.315
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28680
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron1-intron6Location : intron1-intron6
CytoBand : p11.23
Location2 : CDS
Tx : XM_017027921
Tx_version : 3
Tx_start : 18383366
Tx_end : 18442927
Exon_count : 14
Overlapped_tx_length : 28680
Overlapped_CDS_length : 703
Overlapped_CDS_percent : 45
Frameshift : yes
Dist_nearest_SS : 2374
Nearest_SS_type : 3'
Intersect_start : 18407459
Intersect_end : 18436139
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SNRPB2Gene_name : SNRPB2;
LOEUF_bin : 4
GnomAD_pLI : 5.0625e-02
ExAC_pLI : 3.2027e-01
HI : .
TS : .
DDD_HI_percent : 8.34
ExAC_cnvZ : -0.0496277305082918
ExAC_delZ : 0.771859823184666
ExAC_dupZ : -0.482720161963762
ExAC_synZ : -1.17291023799773
ExAC_misZ : 1.9222103282995
Closest_left : LOC105372542
Closest_right : OTOR
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:16731372-16731608
Repeat_type_left : MER113
Gap_left : .
GC_content_left : 0.370
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.295
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SNRPB2Gene_name : SNRPB2;
LOEUF_bin : 4
GnomAD_pLI : 5.0625e-02
ExAC_pLI : 3.2027e-01
HI : .
TS : .
DDD_HI_percent : 8.34
ACMG : .
ExAC_cnvZ : -0.0496277305082918
ExAC_delZ : 0.771859823184666
ExAC_dupZ : -0.482720161963762
ExAC_synZ : -1.17291023799773
ExAC_misZ : 1.9222103282995
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6629
intron1-intron2Location : intron1-intron2
CytoBand : p12.1
Location2 : 5'UTR-CDS
Tx : NM_003092
Tx_version : 5
Tx_start : 16730025
Tx_end : 16742564
Exon_count : 7
Overlapped_tx_length : 500
Overlapped_CDS_length : 64
Overlapped_CDS_percent : 9
Frameshift : yes
Dist_nearest_SS : 175
Nearest_SS_type : 3'
Intersect_start : 16731488
Intersect_end : 16731988
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3822
Gene_count : 1
fullAnnotation_mode : full
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
Closest_left : LOC124904874
Closest_right : LOC124904875
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.03; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:16478233-16478417; 20:16478418-16478915
Repeat_type_right : L1ME3A; MER44B
Gap_right : .
GC_content_right : 0.400
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3822
splitAnnotation_mode : split
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ACMG : .
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55614
intron12-intron12Location : intron12-intron12
CytoBand : p12.1
Location2 : CDS
Tx : NM_001199865
Tx_version : 2
Tx_start : 16272103
Tx_end : 16573448
Exon_count : 25
Overlapped_tx_length : 3822
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 15784
Nearest_SS_type : 5'
Intersect_start : 16474684
Intersect_end : 16478506
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
Closest_left : LOC124904874
Closest_right : LOC124904875
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:16475217-16475440
Repeat_type_right : MIR
Gap_right : .
GC_content_right : 0.320
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ACMG : .
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55614
intron12-intron12Location : intron12-intron12
CytoBand : p12.1
Location2 : CDS
Tx : NM_001199865
Tx_version : 2
Tx_start : 16272103
Tx_end : 16573448
Exon_count : 25
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 19106
Nearest_SS_type : 5'
Intersect_start : 16474684
Intersect_end : 16475184
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
MACROD2Gene_name : MACROD2;
LOEUF_bin : 2
GnomAD_pLI : 4.3472e-01
ExAC_pLI : 1.1357e-02
HI : .
TS : .
DDD_HI_percent : 1.49
ExAC_cnvZ : -0.692742758341261
ExAC_delZ : -1.18278709618643
ExAC_dupZ : -0.597815534527543
ExAC_synZ : 0.337580800459273
ExAC_misZ : 0.372539789325987
Closest_left : MACROD2-AS1
Closest_right : LOC613266
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:15865525-15866126; 20:15866128-15866424
Repeat_type_left : MER73; AluJr
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.405
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
MACROD2Gene_name : MACROD2;
LOEUF_bin : 2
GnomAD_pLI : 4.3472e-01
ExAC_pLI : 1.1357e-02
HI : .
TS : .
DDD_HI_percent : 1.49
ACMG : .
ExAC_cnvZ : -0.692742758341261
ExAC_delZ : -1.18278709618643
ExAC_dupZ : -0.597815534527543
ExAC_synZ : 0.337580800459273
ExAC_misZ : 0.372539789325987
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140733
intron9-intron9Location : intron9-intron9
CytoBand : p12.1
Location2 : CDS
Tx : NM_001351661
Tx_version : 2
Tx_start : 13995515
Tx_end : 16053197
Exon_count : 18
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3331
Nearest_SS_type : 5'
Intersect_start : 15866157
Intersect_end : 15866657
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12943
Gene_count : 1
fullAnnotation_mode : full
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
Closest_left : NDUFAF5
Closest_right : MACROD2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506
po_P_loss_percent : 0.09; 0.10; 2.39
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13856133-13856429
Repeat_type_left : AluSz6
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 12943
splitAnnotation_mode : split
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80343
intron14-intron18Location : intron14-intron18
CytoBand : p12.1
Location2 : CDS
Tx : NM_025229
Tx_version : 2
Tx_start : 13849246
Tx_end : 13990614
Exon_count : 20
Overlapped_tx_length : 12943
Overlapped_CDS_length : 563
Overlapped_CDS_percent : 27
Frameshift : yes
Dist_nearest_SS : 127
Nearest_SS_type : 5'
Intersect_start : 13856432
Intersect_end : 13869375
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3301
Gene_count : 1
fullAnnotation_mode : full
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
Closest_left : NDUFAF5
Closest_right : MACROD2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506
po_P_loss_percent : 0.02; 0.02; 0.61
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13850393-13850878
Repeat_type_right : MLT1E2
Gap_right : .
GC_content_right : 0.390
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3301
splitAnnotation_mode : split
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80343
intron9-txEndLocation : intron9-txEnd
CytoBand : p12.1
Location2 : CDS-3'UTR
Tx : XM_006723654
Tx_version : 5
Tx_start : 13849402
Tx_end : 13886417
Exon_count : 11
Overlapped_tx_length : 995
Overlapped_CDS_length : 252
Overlapped_CDS_percent : 23
Frameshift : no
Dist_nearest_SS : 78
Nearest_SS_type : 3'
Intersect_start : 13849402
Intersect_end : 13850397
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 23814
Gene_count : 1
fullAnnotation_mode : full
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
Closest_left : NDUFAF5
Closest_right : MACROD2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506
po_P_loss_percent : 0.17; 0.18; 4.39
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13845600-13845897
Repeat_type_left : AluSc
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 23814
splitAnnotation_mode : split
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80343
intron5-txEndLocation : intron5-txEnd
CytoBand : p12.1
Location2 : CDS-3'UTR
Tx : XM_006723654
Tx_version : 5
Tx_start : 13849402
Tx_end : 13886417
Exon_count : 11
Overlapped_tx_length : 19973
Overlapped_CDS_length : 815
Overlapped_CDS_percent : 76
Frameshift : yes
Dist_nearest_SS : 127
Nearest_SS_type : 5'
Intersect_start : 13849402
Intersect_end : 13869375
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 29719
Gene_count : 1
fullAnnotation_mode : full
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
Closest_left : NDUFAF5
Closest_right : MACROD2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv18787641
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:13785070-14327506
po_P_loss_percent : 0.21; 0.22; 5.48
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:13839903-13845210 dbVar
po_B_loss_someG_coord : 20:13839804-13839900 CMRI:0_pbsv.DEL.175_duplicate8
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13839519-13840048
Repeat_type_left : MLT1D
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 29719
splitAnnotation_mode : split
SEL1L2Gene_name : SEL1L2;
LOEUF_bin : 6
GnomAD_pLI : 7.3382e-20
ExAC_pLI : 2.6913e-11
HI : .
TS : .
DDD_HI_percent : 27.53
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : 0.181765464082087
ExAC_dupZ : -2.53125239294469
ExAC_synZ : 0.597274324545503
ExAC_misZ : -0.551281570491424
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80343
intron5-txEndLocation : intron5-txEnd
CytoBand : p12.1
Location2 : CDS-3'UTR
Tx : XM_006723654
Tx_version : 5
Tx_start : 13849402
Tx_end : 13886417
Exon_count : 11
Overlapped_tx_length : 19973
Overlapped_CDS_length : 815
Overlapped_CDS_percent : 76
Frameshift : yes
Dist_nearest_SS : 127
Nearest_SS_type : 5'
Intersect_start : 13849402
Intersect_end : 13869375
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11283
Gene_count : 1
fullAnnotation_mode : full
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
Closest_left : LOC124904872
Closest_right : NDUFAF5
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.08; 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:13774522-13774614 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.230
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11283
splitAnnotation_mode : split
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ACMG : .
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51575
intron2-intron7Location : intron2-intron7
CytoBand : p12.1
Location2 : CDS
Tx : NM_001276380
Tx_version : 2
Tx_start : 13714324
Tx_end : 13784919
Exon_count : 14
Overlapped_tx_length : 11283
Overlapped_CDS_length : 881
Overlapped_CDS_percent : 34
Frameshift : yes
Dist_nearest_SS : 1148
Nearest_SS_type : 3'
Intersect_start : 13768072
Intersect_end : 13779355
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8379
Gene_count : 1
fullAnnotation_mode : full
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
Closest_left : LOC124904872
Closest_right : NDUFAF5
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.06; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:13748517-13748561 HPRC:pbsv.DEL.1064
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13747279-13747617; 20:13747672-13747812
Repeat_type_left : AluSc; Tigger3c
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13756149-13756215
Repeat_type_right : MIR
Gap_right : .
GC_content_right : 0.365
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8379
splitAnnotation_mode : split
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ACMG : .
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51575
intron9-intron9Location : intron9-intron9
CytoBand : p12.1
Location2 : CDS
Tx : NM_001276380
Tx_version : 2
Tx_start : 13714324
Tx_end : 13784919
Exon_count : 14
Overlapped_tx_length : 8379
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3640
Nearest_SS_type : 5'
Intersect_start : 13747672
Intersect_end : 13756051
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 41447
Gene_count : 1
fullAnnotation_mode : full
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
Closest_left : LOC124904872
Closest_right : NDUFAF5
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.30; 0.31
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:13704740-13705473 dbVar; 20:13704756-13705467 DDD:54351; chr20:13709025-13709326 dbVar; chr20:13713691-13713743 dbVar
po_B_loss_someG_coord : chr20:13702179-13702759 dbVar; 20:13704741-13705473 1000g; chr20:13704758-13705467 dbVar; chr20:13709066-13709612 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13699109-13699403
Repeat_type_left : AluJr
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13740401-13740738
Repeat_type_right : L1ME3F
Gap_right : .
GC_content_right : 0.385
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 41447
splitAnnotation_mode : split
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ACMG : .
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51575
intron9-txEndLocation : intron9-txEnd
CytoBand : p12.1
Location2 : CDS-3'UTR
Tx : NM_001276380
Tx_version : 2
Tx_start : 13714324
Tx_end : 13784919
Exon_count : 14
Overlapped_tx_length : 26426
Overlapped_CDS_length : 728
Overlapped_CDS_percent : 28
Frameshift : yes
Dist_nearest_SS : 6908
Nearest_SS_type : 3'
Intersect_start : 13714324
Intersect_end : 13740750
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 61949
Gene_count : 1
fullAnnotation_mode : full
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
Closest_left : LOC124904872
Closest_right : NDUFAF5
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.44; 0.46
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:13704740-13705473 dbVar; 20:13704756-13705467 DDD:54351; chr20:13709025-13709326 dbVar; chr20:13713691-13713743 dbVar;
po_B_loss_someG_coord : chr20:13702179-13702759 dbVar; 20:13704741-13705473 1000g; chr20:13704758-13705467 dbVar; chr20:13709066-13709612 dbVar; chr20:13748517-13748561 HPRC:pbsv.DEL.1064
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13695206-13695653
Repeat_type_left : L4_B_Mam
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13757140-13757313
Repeat_type_right : L1MC
Gap_right : .
GC_content_right : 0.295
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 61949
splitAnnotation_mode : split
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ACMG : .
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51575
intron9-txEndLocation : intron9-txEnd
CytoBand : p12.1
Location2 : CDS-3'UTR
Tx : NM_001276380
Tx_version : 2
Tx_start : 13714324
Tx_end : 13784919
Exon_count : 14
Overlapped_tx_length : 42842
Overlapped_CDS_length : 728
Overlapped_CDS_percent : 28
Frameshift : yes
Dist_nearest_SS : 2525
Nearest_SS_type : 5'
Intersect_start : 13714324
Intersect_end : 13757166
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SPTLC3Gene_name : SPTLC3;
LOEUF_bin : 4
GnomAD_pLI : 3.2277e-07
ExAC_pLI : 2.7552e-03
HI : .
TS : .
DDD_HI_percent : 55.96
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.716653814749956
ExAC_dupZ : -1.41345273995757
ExAC_synZ : -0.300391139079614
ExAC_misZ : 0.282423350871239
Closest_left : LINC01723
Closest_right : TASP1
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012
po_P_loss_percent : 0.00; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13071116-13071624
Repeat_type_left : MER75
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.405
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SPTLC3Gene_name : SPTLC3;
LOEUF_bin : 4
GnomAD_pLI : 3.2277e-07
ExAC_pLI : 2.7552e-03
HI : .
TS : .
DDD_HI_percent : 55.96
ACMG : .
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.716653814749956
ExAC_dupZ : -1.41345273995757
ExAC_synZ : -0.300391139079614
ExAC_misZ : 0.282423350871239
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55304
intron2-intron2Location : intron2-intron2
CytoBand : p12.1
Location2 : CDS
Tx : XM_047440256
Tx_version : 1
Tx_start : 13008971
Tx_end : 13126717
Exon_count : 8
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 276
Nearest_SS_type : 3'
Intersect_start : 13071479
Intersect_end : 13071979
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2593
Gene_count : 1
fullAnnotation_mode : full
SPTLC3Gene_name : SPTLC3;
LOEUF_bin : 4
GnomAD_pLI : 3.2277e-07
ExAC_pLI : 2.7552e-03
HI : .
TS : .
DDD_HI_percent : 55.96
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.716653814749956
ExAC_dupZ : -1.41345273995757
ExAC_synZ : -0.300391139079614
ExAC_misZ : 0.282423350871239
Closest_left : LINC01723
Closest_right : TASP1
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012
po_P_loss_percent : 0.02; 0.04; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13052073-13053986
Repeat_type_left : L1P3
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13055177-13055323
Repeat_type_right : LTR86B1
Gap_right : .
GC_content_right : 0.420
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2593
splitAnnotation_mode : split
SPTLC3Gene_name : SPTLC3;
LOEUF_bin : 4
GnomAD_pLI : 3.2277e-07
ExAC_pLI : 2.7552e-03
HI : .
TS : .
DDD_HI_percent : 55.96
ACMG : .
ExAC_cnvZ : -1.17887220601726
ExAC_delZ : -0.716653814749956
ExAC_dupZ : -1.41345273995757
ExAC_synZ : -0.300391139079614
ExAC_misZ : 0.282423350871239
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55304
intron2-intron2Location : intron2-intron2
CytoBand : p12.1
Location2 : CDS
Tx : XM_047440256
Tx_version : 1
Tx_start : 13008971
Tx_end : 13126717
Exon_count : 8
Overlapped_tx_length : 2593
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3522
Nearest_SS_type : 5'
Intersect_start : 13052652
Intersect_end : 13055245
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.15
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2H (SNAP25, +0.15): Two or more HI predictors suggest that AT LEAST ONE gene in the interval is HI (gnomAD pLI >=0.9 and DECIPHER HI index <=10%)
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 898
Gene_count : 1
fullAnnotation_mode : full
SNAP25Gene_name : SNAP25;
LOEUF_bin : 0
GnomAD_pLI : 9.8653e-01
ExAC_pLI : 9.5981e-01
HI : .
TS : .
DDD_HI_percent : 3.88
ExAC_cnvZ : 0.810133049340259
ExAC_delZ : 0.668131025540279
ExAC_dupZ : 0.594663384351909
ExAC_synZ : 1.44353061933591
ExAC_misZ : 3.23331193749431
Closest_left : LOC124904959
Closest_right : MKKS
.Location : .
CytoBand : p12.2
600322; OMIM_ID : 600322;
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; dbVar:nssv15147284; dbVar:nssv15606052; dbVar:nssv15771677
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9550976-12083434; 20:10144208-11498457; 20:10253610-10673550
po_P_loss_percent : 0.01; 0.01; 0.01; 0.01; 0.03; 0.01; 0.04; 0.07; 0.21
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:10273209-10273225; 20:10273371-10273594
Repeat_type_left : (AAT)n; MLT1J1
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:10273977-10274136
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.480
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 898
splitAnnotation_mode : split
SNAP25Gene_name : SNAP25;
LOEUF_bin : 0
GnomAD_pLI : 9.8653e-01
ExAC_pLI : 9.5981e-01
HI : .
TS : .
DDD_HI_percent : 3.88
ACMG : .
ExAC_cnvZ : 0.810133049340259
ExAC_delZ : 0.668131025540279
ExAC_dupZ : 0.594663384351909
ExAC_synZ : 1.44353061933591
ExAC_misZ : 3.23331193749431
GenCC_disease : congenital myasthenic syndrome 18; developmental and epileptic encephalopathy; presynaptic congenital myasthenic syndrome
GenCC_moi : AD
GenCC_classification : Definitive; Limited; Moderate; Strong; Supportive
GenCC_pmid : 25381298; 25381298[PMID]_25792100[PMID]; 29056461
NCBI_gene_ID : 6616
intron1-intron1Location : intron1-intron1
CytoBand : p12.2
Location2 : 5'UTR
Tx : XM_047440391
Tx_version : 1
Tx_start : 10218829
Tx_end : 10297054
Exon_count : 6
Overlapped_tx_length : 898
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1252
Nearest_SS_type : 3'
Intersect_start : 10273278
Intersect_end : 10274176
600322; OMIM_ID : 600322;
OMIM_phenotype : ?Myasthenic syndrome, congenital, 18, 616330 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1357
Gene_count : 1
fullAnnotation_mode : full
MCM8Gene_name : MCM8;
LOEUF_bin : 5
GnomAD_pLI : 1.0536e-16
ExAC_pLI : 1.9289e-10
HI : .
TS : .
DDD_HI_percent : 0.31
ExAC_cnvZ : 0.670689793926319
ExAC_delZ : 0.0652954789617851
ExAC_dupZ : 0.894892763763837
ExAC_synZ : -0.951232916035886
ExAC_misZ : -0.0604974802456897
Closest_left : TRMT6
Closest_right : MCM8-AS1
.Location : .
CytoBand : p12.3
608187; OMIM_ID : 608187;
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
FERMT1 (morbid/RE=EA_enhancer); RE_gene : FERMT1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370
po_P_loss_percent : 0.02; 0.01; 0.02; 0.05; 0.02; 1.18
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5973664-5973950
Repeat_type_left : AluSz6
Gap_left : .
GC_content_left : 0.510
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:5974979-5975279
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.405
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1357
splitAnnotation_mode : split
MCM8Gene_name : MCM8;
LOEUF_bin : 5
GnomAD_pLI : 1.0536e-16
ExAC_pLI : 1.9289e-10
HI : .
TS : .
DDD_HI_percent : 0.31
ACMG : .
ExAC_cnvZ : 0.670689793926319
ExAC_delZ : 0.0652954789617851
ExAC_dupZ : 0.894892763763837
ExAC_synZ : -0.951232916035886
ExAC_misZ : -0.0604974802456897
GenCC_disease : premature ovarian failure 10
GenCC_moi : AR
GenCC_classification : Moderate; Strong
GenCC_pmid : 22771120; 251316; 251370; 25437880; 25873734; 27573988; 27802094; 282878; 28863940; 31042289
NCBI_gene_ID : 84515
intron12-intron12Location : intron12-intron12
CytoBand : p12.3
Location2 : CDS
Tx : XM_047440554
Tx_version : 1
Tx_start : 5950651
Tx_end : 5977967
Exon_count : 14
Overlapped_tx_length : 1357
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 704
Nearest_SS_type : 5'
Intersect_start : 5973900
Intersect_end : 5975257
608187; OMIM_ID : 608187;
OMIM_phenotype : ?Premature ovarian failure 10, 612885 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : .
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1238
Gene_count : 1
fullAnnotation_mode : full
CHGBGene_name : CHGB;
LOEUF_bin : 4
GnomAD_pLI : 2.3622e-07
ExAC_pLI : 3.8164e-07
HI : .
TS : .
DDD_HI_percent : 72.37
ExAC_cnvZ : 0.338652320699006
ExAC_delZ : 0.214607002761655
ExAC_dupZ : 0.204801876710487
ExAC_synZ : -0.497922486404799
ExAC_misZ : -0.874076392144116
Closest_left : SHLD1
Closest_right : TRMT6
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv18787857
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:5916327-6031370
po_P_loss_percent : 0.02; 0.01; 0.01; 0.05; 0.01; 1.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5924309-5924471
Repeat_type_left : MER5B
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:5925790-5925803
Repeat_type_right : (AG)n
Gap_right : .
GC_content_right : 0.395
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1238
splitAnnotation_mode : split
CHGBGene_name : CHGB;
LOEUF_bin : 4
GnomAD_pLI : 2.3622e-07
ExAC_pLI : 3.8164e-07
HI : .
TS : .
DDD_HI_percent : 72.37
ACMG : .
ExAC_cnvZ : 0.338652320699006
ExAC_delZ : 0.214607002761655
ExAC_dupZ : 0.204801876710487
ExAC_synZ : -0.497922486404799
ExAC_misZ : -0.874076392144116
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 1114
intron4-txEndLocation : intron4-txEnd
CytoBand : p12.3
Location2 : CDS-3'UTR
Tx : NM_001819
Tx_version : 3
Tx_start : 5911509
Tx_end : 5925353
Exon_count : 5
Overlapped_tx_length : 892
Overlapped_CDS_length : 78
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 361
Nearest_SS_type : 5'
Intersect_start : 5924461
Intersect_end : 5925353
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
Closest_left : LINC01729
Closest_right : LOC124904864
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121
po_P_loss_percent : 0.01; 0.00; 0.01; 0.02; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.370
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.280
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ACMG : .
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 56261
intron5-intron5Location : intron5-intron5
CytoBand : p12.3
Location2 : CDS
Tx : NM_019593
Tx_version : 5
Tx_start : 5544438
Tx_end : 5611006
Exon_count : 20
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 436
Nearest_SS_type : 3'
Intersect_start : 5584758
Intersect_end : 5585258
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 24856
Gene_count : 1
fullAnnotation_mode : full
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
Closest_left : LINC01729
Closest_right : LOC124904864
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121
po_P_loss_percent : 0.43; 0.27; 0.18; 0.29; 0.97; 0.30
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.265
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.280
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 24856
splitAnnotation_mode : split
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ACMG : .
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 56261
intron5-intron16Location : intron5-intron16
CytoBand : p12.3
Location2 : CDS
Tx : NM_019593
Tx_version : 5
Tx_start : 5544438
Tx_end : 5611006
Exon_count : 20
Overlapped_tx_length : 24856
Overlapped_CDS_length : 1088
Overlapped_CDS_percent : 53
Frameshift : yes
Dist_nearest_SS : 326
Nearest_SS_type : 3'
Intersect_start : 5560402
Intersect_end : 5585258
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 14475
Gene_count : 1
fullAnnotation_mode : full
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
Closest_left : LINC01729
Closest_right : LOC124904864
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
PROKR2 (morbid/RE=EA_enhancer); FERMT1 (morbi[...]RE_gene : PROKR2 (morbid/RE=EA_enhancer); FERMT1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121
po_P_loss_percent : 0.25; 0.57; 0.10; 0.17; 0.56; 0.17
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:5553899-5554275 HPRC:pbsv.DEL.553; 20:5553900-5554275 1000g; chr20:5553901-5554275 dbVar; 20:5553902-5554275 IMH
po_B_loss_someG_coord : 20:5553899-5554275 CMRI:0_pbsv.DEL.92_duplicate10; chr20:5553899-5554275 dbVar; chr20:5553900-5554275 dbVar; chr20:5553901-5554275 gnomAD-SV_v3_DEL_chr20_8c15efc3
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5539545-5540239
Repeat_type_left : LTR8B
Gap_left : .
GC_content_left : 0.475
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:5554284-5555258
Repeat_type_right : Tigger1
Gap_right : .
GC_content_right : 0.365
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 14475
splitAnnotation_mode : split
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ACMG : .
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 56261
intron19-txEndLocation : intron19-txEnd
CytoBand : p12.3
Location2 : CDS-3'UTR
Tx : NM_019593
Tx_version : 5
Tx_start : 5544438
Tx_end : 5611006
Exon_count : 20
Overlapped_tx_length : 10371
Overlapped_CDS_length : 190
Overlapped_CDS_percent : 9
Frameshift : yes
Dist_nearest_SS : 3135
Nearest_SS_type : 5'
Intersect_start : 5544438
Intersect_end : 5554809
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 18487
Gene_count : 1
fullAnnotation_mode : full
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
Closest_left : LINC01729
Closest_right : LOC124904864
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
FERMT1 (morbid/RE=EA_enhancer); PROKR2 (morbi[...]RE_gene : FERMT1 (morbid/RE=EA_enhancer); PROKR2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121
po_P_loss_percent : 0.32; 0.73; 0.13; 0.21; 0.72; 0.22
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:5553899-5554275 HPRC:pbsv.DEL.553; 20:5553900-5554275 1000g; chr20:5553901-5554275 dbVar; 20:5553902-5554275 IMH
po_B_loss_someG_coord : 20:5553899-5554275 CMRI:0_pbsv.DEL.92_duplicate10; chr20:5553899-5554275 dbVar; chr20:5553900-5554275 dbVar; chr20:5553901-5554275 gnomAD-SV_v3_DEL_chr20_8c15efc3
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:5538151-5538452
Repeat_type_left : AluSg
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:5556732-5557692
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.405
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 18487
splitAnnotation_mode : split
GPCPD1Gene_name : GPCPD1;
LOEUF_bin : 1
GnomAD_pLI : 2.0180e-01
ExAC_pLI : 1.2557e-01
HI : .
TS : .
DDD_HI_percent : 27.83
ACMG : .
ExAC_cnvZ : -1.41579711721871
ExAC_delZ : 1.14916227330992
ExAC_dupZ : -2.21394792459171
ExAC_synZ : -0.26064583429239
ExAC_misZ : 1.93403578081003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 56261
intron19-txEndLocation : intron19-txEnd
CytoBand : p12.3
Location2 : CDS-3'UTR
Tx : NM_019593
Tx_version : 5
Tx_start : 5544438
Tx_end : 5611006
Exon_count : 20
Overlapped_tx_length : 12388
Overlapped_CDS_length : 190
Overlapped_CDS_percent : 9
Frameshift : yes
Dist_nearest_SS : 1118
Nearest_SS_type : 5'
Intersect_start : 5544438
Intersect_end : 5556826
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4021
Gene_count : 1
fullAnnotation_mode : full
TMEM230Gene_name : TMEM230;
LOEUF_bin : 8
GnomAD_pLI : 1.8056e-04
ExAC_pLI : 1.3820e-02
HI : .
TS : .
DDD_HI_percent : 36.62
ExAC_cnvZ : -0.324192381306669
ExAC_delZ : 0.232658514527564
ExAC_dupZ : -0.567378188878657
ExAC_synZ : 0.139871336005673
ExAC_misZ : 1.21188811838716
Closest_left : SLC23A2
Closest_right : PCNA
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121
po_P_loss_percent : 0.07; 0.16; 0.03; 0.05; 0.16; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:5099460-5099746
Repeat_type_right : L2
Gap_right : .
GC_content_right : 0.470
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4021
splitAnnotation_mode : split
TMEM230Gene_name : TMEM230;
LOEUF_bin : 8
GnomAD_pLI : 1.8056e-04
ExAC_pLI : 1.3820e-02
HI : .
TS : .
DDD_HI_percent : 36.62
ACMG : .
ExAC_cnvZ : -0.324192381306669
ExAC_delZ : 0.232658514527564
ExAC_dupZ : -0.567378188878657
ExAC_synZ : 0.139871336005673
ExAC_misZ : 1.21188811838716
GenCC_disease : Parkinson disease
GenCC_moi : sD
GenCC_classification : Moderate
GenCC_pmid : .
NCBI_gene_ID : 29058
intron4-intron4Location : intron4-intron4
CytoBand : p13
Location2 : UTR
Tx : XR_007067454
Tx_version : 1
Tx_start : 5059115
Tx_end : 5113076
Exon_count : 8
Overlapped_tx_length : 4021
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6819
Nearest_SS_type : 5'
Intersect_start : 5095347
Intersect_end : 5099368
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
CDC25BGene_name : CDC25B;
LOEUF_bin : 2
GnomAD_pLI : 3.6430e-01
ExAC_pLI : 5.9073e-01
HI : .
TS : .
DDD_HI_percent : 32.24
ExAC_cnvZ : 0.363400516586885
ExAC_delZ : 0.945852107679768
ExAC_dupZ : -0.0127528103910442
ExAC_synZ : -0.234933631784881
ExAC_misZ : 1.70206841525193
Closest_left : CENPB
Closest_right : LINC01730
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.02; 0.04; 0.12; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3804094-3804486
Repeat_type_left : L2
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.495
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
CDC25BGene_name : CDC25B;
LOEUF_bin : 2
GnomAD_pLI : 3.6430e-01
ExAC_pLI : 5.9073e-01
HI : .
TS : .
DDD_HI_percent : 32.24
ACMG : .
ExAC_cnvZ : 0.363400516586885
ExAC_delZ : 0.945852107679768
ExAC_dupZ : -0.0127528103910442
ExAC_synZ : -0.234933631784881
ExAC_misZ : 1.70206841525193
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 994
intron14-exon16Location : intron14-exon16
CytoBand : p13
Location2 : CDS-3'UTR
Tx : NM_001287516
Tx_version : 2
Tx_start : 3786950
Tx_end : 3806115
Exon_count : 16
Overlapped_tx_length : 1000
Overlapped_CDS_length : 253
Overlapped_CDS_percent : 16
Frameshift : yes
Dist_nearest_SS : 302
Nearest_SS_type : 3'
Intersect_start : 3804266
Intersect_end : 3805266
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
CDC25BGene_name : CDC25B;
LOEUF_bin : 2
GnomAD_pLI : 3.6430e-01
ExAC_pLI : 5.9073e-01
HI : .
TS : .
DDD_HI_percent : 32.24
ExAC_cnvZ : 0.363400516586885
ExAC_delZ : 0.945852107679768
ExAC_dupZ : -0.0127528103910442
ExAC_synZ : -0.234933631784881
ExAC_misZ : 1.70206841525193
Closest_left : CENPB
Closest_right : LINC01730
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.01; 0.02; 0.06; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3804094-3804486
Repeat_type_left : L2
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.625
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
CDC25BGene_name : CDC25B;
LOEUF_bin : 2
GnomAD_pLI : 3.6430e-01
ExAC_pLI : 5.9073e-01
HI : .
TS : .
DDD_HI_percent : 32.24
ACMG : .
ExAC_cnvZ : 0.363400516586885
ExAC_delZ : 0.945852107679768
ExAC_dupZ : -0.0127528103910442
ExAC_synZ : -0.234933631784881
ExAC_misZ : 1.70206841525193
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 994
intron14-intron15Location : intron14-intron15
CytoBand : p13
Location2 : CDS
Tx : NM_001287516
Tx_version : 2
Tx_start : 3786950
Tx_end : 3806115
Exon_count : 16
Overlapped_tx_length : 500
Overlapped_CDS_length : 112
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 54
Nearest_SS_type : 3'
Intersect_start : 3804266
Intersect_end : 3804766
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2769
Gene_count : 1
fullAnnotation_mode : full
CDC25BGene_name : CDC25B;
LOEUF_bin : 2
GnomAD_pLI : 3.6430e-01
ExAC_pLI : 5.9073e-01
HI : .
TS : .
DDD_HI_percent : 32.24
ExAC_cnvZ : 0.363400516586885
ExAC_delZ : 0.945852107679768
ExAC_dupZ : -0.0127528103910442
ExAC_synZ : -0.234933631784881
ExAC_misZ : 1.70206841525193
Closest_left : CENPB
Closest_right : LINC01730
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.05; 0.11; 0.33; 0.02; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.495
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2769
splitAnnotation_mode : split
CDC25BGene_name : CDC25B;
LOEUF_bin : 2
GnomAD_pLI : 3.6430e-01
ExAC_pLI : 5.9073e-01
HI : .
TS : .
DDD_HI_percent : 32.24
ACMG : .
ExAC_cnvZ : 0.363400516586885
ExAC_delZ : 0.945852107679768
ExAC_dupZ : -0.0127528103910442
ExAC_synZ : -0.234933631784881
ExAC_misZ : 1.70206841525193
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 994
intron11-exon16Location : intron11-exon16
CytoBand : p13
Location2 : CDS-3'UTR
Tx : NM_001287516
Tx_version : 2
Tx_start : 3786950
Tx_end : 3806115
Exon_count : 16
Overlapped_tx_length : 2769
Overlapped_CDS_length : 549
Overlapped_CDS_percent : 35
Frameshift : no
Dist_nearest_SS : 121
Nearest_SS_type : 5'
Intersect_start : 3802497
Intersect_end : 3805266
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1587
Gene_count : 1
fullAnnotation_mode : full
ADAM33Gene_name : ADAM33;
LOEUF_bin : 5
GnomAD_pLI : 2.1487e-15
ExAC_pLI : 1.3126e-11
HI : .
TS : .
DDD_HI_percent : 73.4
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.542544433311342
ExAC_synZ : 2.09506224906933
ExAC_misZ : 0.766348201860749
Closest_left : GFRA4
Closest_right : SIGLEC1
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.03; 0.06; 0.19; 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3673003-3673044
Repeat_type_left : MIR3
Gap_left : .
GC_content_left : 0.665
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.610
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1587
splitAnnotation_mode : split
ADAM33Gene_name : ADAM33;
LOEUF_bin : 5
GnomAD_pLI : 2.1487e-15
ExAC_pLI : 1.3126e-11
HI : .
TS : .
DDD_HI_percent : 73.4
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.542544433311342
ExAC_synZ : 2.09506224906933
ExAC_misZ : 0.766348201860749
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80332
exon6-exon11Location : exon6-exon11
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_017028082
Tx_version : 2
Tx_start : 3672804
Tx_end : 3682010
Exon_count : 11
Overlapped_tx_length : 1587
Overlapped_CDS_length : 761
Overlapped_CDS_percent : 58
Frameshift : yes
Dist_nearest_SS : 92
Nearest_SS_type : 5'
Intersect_start : 3673008
Intersect_end : 3674595
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 927
Gene_count : 1
fullAnnotation_mode : full
ADAM33Gene_name : ADAM33;
LOEUF_bin : 5
GnomAD_pLI : 2.1487e-15
ExAC_pLI : 1.3126e-11
HI : .
TS : .
DDD_HI_percent : 73.4
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.542544433311342
ExAC_synZ : 2.09506224906933
ExAC_misZ : 0.766348201860749
Closest_left : GFRA4
Closest_right : SIGLEC1
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.02; 0.04; 0.11; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3673003-3673044
Repeat_type_left : MIR3
Gap_left : .
GC_content_left : 0.665
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.715
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 927
splitAnnotation_mode : split
ADAM33Gene_name : ADAM33;
LOEUF_bin : 5
GnomAD_pLI : 2.1487e-15
ExAC_pLI : 1.3126e-11
HI : .
TS : .
DDD_HI_percent : 73.4
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.542544433311342
ExAC_synZ : 2.09506224906933
ExAC_misZ : 0.766348201860749
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 80332
intron8-exon11Location : intron8-exon11
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_017028082
Tx_version : 2
Tx_start : 3672804
Tx_end : 3682010
Exon_count : 11
Overlapped_tx_length : 927
Overlapped_CDS_length : 531
Overlapped_CDS_percent : 40
Frameshift : no
Dist_nearest_SS : 24
Nearest_SS_type : 3'
Intersect_start : 3673008
Intersect_end : 3673935
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28697
Gene_count : 1
fullAnnotation_mode : full
ATRNGene_name : ATRN;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 24.22
ExAC_cnvZ : 0.240475621263564
ExAC_delZ : 1.01366924264747
ExAC_dupZ : -0.196332580213662
ExAC_synZ : 0.587733874438277
ExAC_misZ : 2.15130160113174
Closest_left : LOC105372509
Closest_right : GFRA4
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.50; 1.13; 3.41; 0.20; 0.33
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:3604004-3604077 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3576670-3576744
Repeat_type_left : (TATC)n
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3605139-3605925
Repeat_type_right : L1PA11
Gap_right : .
GC_content_right : 0.360
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28697
splitAnnotation_mode : split
ATRNGene_name : ATRN;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 24.22
ACMG : .
ExAC_cnvZ : 0.240475621263564
ExAC_delZ : 1.01366924264747
ExAC_dupZ : -0.196332580213662
ExAC_synZ : 0.587733874438277
ExAC_misZ : 2.15130160113174
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8455
intron13-intron24Location : intron13-intron24
CytoBand : p13
Location2 : CDS
Tx : NM_001207047
Tx_version : 3
Tx_start : 3471017
Tx_end : 3616058
Exon_count : 25
Overlapped_tx_length : 28697
Overlapped_CDS_length : 1587
Overlapped_CDS_percent : 45
Frameshift : no
Dist_nearest_SS : 86
Nearest_SS_type : 3'
Intersect_start : 3576772
Intersect_end : 3605469
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 24640
Gene_count : 1
fullAnnotation_mode : full
ATRNGene_name : ATRN;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 24.22
ExAC_cnvZ : 0.240475621263564
ExAC_delZ : 1.01366924264747
ExAC_dupZ : -0.196332580213662
ExAC_synZ : 0.587733874438277
ExAC_misZ : 2.15130160113174
Closest_left : LOC105372509
Closest_right : GFRA4
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.43; 0.97; 2.93; 0.18; 0.28
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:3515756-3516032 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3515239-3516373
Repeat_type_left : L2
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.320
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 24640
splitAnnotation_mode : split
ATRNGene_name : ATRN;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 24.22
ACMG : .
ExAC_cnvZ : 0.240475621263564
ExAC_delZ : 1.01366924264747
ExAC_dupZ : -0.196332580213662
ExAC_synZ : 0.587733874438277
ExAC_misZ : 2.15130160113174
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8455
intron1-exon3Location : intron1-exon3
CytoBand : p13
Location2 : CDS
Tx : NM_001207047
Tx_version : 3
Tx_start : 3471017
Tx_end : 3616058
Exon_count : 25
Overlapped_tx_length : 24640
Overlapped_CDS_length : 151
Overlapped_CDS_percent : 4
Frameshift : yes
Dist_nearest_SS : 47
Nearest_SS_type : 5'
Intersect_start : 3515648
Intersect_end : 3540288
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8401
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.15; 0.33; 1.00; 0.06; 0.10
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8401
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
exon10-exon11Location : exon10-exon11
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 8401
Overlapped_CDS_length : 52
Overlapped_CDS_percent : 2
Frameshift : yes
Dist_nearest_SS : 13
Nearest_SS_type : 5'
Intersect_start : 3270523
Intersect_end : 3278924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5002
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.09; 0.20; 0.60; 0.04; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 5002
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-exon11Location : intron10-exon11
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 5002
Overlapped_CDS_length : 39
Overlapped_CDS_percent : 2
Frameshift : no
Dist_nearest_SS : 39
Nearest_SS_type : 3'
Intersect_start : 3270523
Intersect_end : 3275525
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.01; 0.02; 0.06; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3270811-3271112
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-exon11Location : intron10-exon11
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 500
Overlapped_CDS_length : 39
Overlapped_CDS_percent : 2
Frameshift : no
Dist_nearest_SS : 39
Nearest_SS_type : 3'
Intersect_start : 3270523
Intersect_end : 3271023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 45149
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/R[...]RE_gene : DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.79; 1.78; 5.37; 0.32; 0.52
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355
po_B_loss_someG_coord : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334
Repeat_type_left : L1MC4; AluSq2
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 45149
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron20-intron30Location : intron20-intron30
CytoBand : p13
Location2 : CDS
Tx : NM_001009984
Tx_version : 3
Tx_start : 3249305
Tx_end : 3407669
Exon_count : 37
Overlapped_tx_length : 45149
Overlapped_CDS_length : 1108
Overlapped_CDS_percent : 31
Frameshift : yes
Dist_nearest_SS : 1857
Nearest_SS_type : 5'
Intersect_start : 3268026
Intersect_end : 3313175
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 17309
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid[...]RE_gene : DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.30; 0.68; 2.06; 0.12; 0.20
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3281258-3281315 dbVar
po_B_loss_someG_coord : chr20:3281257-3281315 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334
Repeat_type_left : L1MC4; AluSq2
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3285266-3285389; 20:3285399-3285695
Repeat_type_right : FLAM_C; AluSz
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 17309
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron8-intron11Location : intron8-intron11
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 17309
Overlapped_CDS_length : 300
Overlapped_CDS_percent : 16
Frameshift : no
Dist_nearest_SS : 2296
Nearest_SS_type : 5'
Intersect_start : 3268026
Intersect_end : 3285335
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 10898
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.19; 0.43; 1.30; 0.08; 0.13
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334
Repeat_type_left : L1MC4; AluSq2
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 10898
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
exon10-intron11Location : exon10-intron11
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 10898
Overlapped_CDS_length : 149
Overlapped_CDS_percent : 8
Frameshift : yes
Dist_nearest_SS : 13
Nearest_SS_type : 5'
Intersect_start : 3268026
Intersect_end : 3278924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 7499
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/[...]RE_gene : NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.13; 0.29; 0.89; 0.05; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334
Repeat_type_left : L1MC4; AluSq2
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 7499
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-intron11Location : intron10-intron11
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 7499
Overlapped_CDS_length : 136
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 2400
Nearest_SS_type : 5'
Intersect_start : 3268026
Intersect_end : 3275525
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2997
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.05; 0.12; 0.36; 0.02; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3267940-3268017; 20:3268018-3268334
Repeat_type_left : L1MC4; AluSq2
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3270811-3271112
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 2997
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-intron11Location : intron10-intron11
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 2997
Overlapped_CDS_length : 136
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 461
Nearest_SS_type : 3'
Intersect_start : 3268026
Intersect_end : 3271023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8988
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.16; 0.35; 1.07; 0.06; 0.10
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3270811-3271112
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 8988
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-intron12Location : intron10-intron12
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 8988
Overlapped_CDS_length : 223
Overlapped_CDS_percent : 12
Frameshift : yes
Dist_nearest_SS : 461
Nearest_SS_type : 3'
Intersect_start : 3262035
Intersect_end : 3271023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 104016
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=[...]RE_gene : ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 1.82; 4.09; 12.37; 0.74; 1.20
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar; chr20:3317789-3331870 dbVar; chr20:3359940-3360033 dbVar
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355; chr20:3341368-3368662 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3362947-3363248; 20:3363249-3363316; 20:3363318-3363491
Repeat_type_right : AluSx; HAL1; AluSx
Gap_right : .
GC_content_right : 0.415
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 104016
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron6-intron33Location : intron6-intron33
CytoBand : p13
Location2 : CDS
Tx : NM_001009984
Tx_version : 3
Tx_start : 3249305
Tx_end : 3407669
Exon_count : 37
Overlapped_tx_length : 104016
Overlapped_CDS_length : 2443
Overlapped_CDS_percent : 69
Frameshift : yes
Dist_nearest_SS : 173
Nearest_SS_type : 5'
Intersect_start : 3259306
Intersect_end : 3363322
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 70114
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/[...]RE_gene : IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 1.23; 2.76; 8.34; 0.50; 0.81
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar; chr20:3317789-3331870 dbVar
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3329181-3329456; 20:3329457-3329472
Repeat_type_right : AluJb; (ATAC)n
Gap_right : .
GC_content_right : 0.490
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 70114
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron12-intron33Location : intron12-intron33
CytoBand : p13
Location2 : CDS
Tx : NM_001009984
Tx_version : 3
Tx_start : 3249305
Tx_end : 3407669
Exon_count : 37
Overlapped_tx_length : 70114
Overlapped_CDS_length : 1955
Overlapped_CDS_percent : 55
Frameshift : yes
Dist_nearest_SS : 173
Nearest_SS_type : 5'
Intersect_start : 3259306
Intersect_end : 3329420
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 53869
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.94; 2.12; 6.41; 0.38; 0.62
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3281257-3281315 dbVar; chr20:3290862-3291518 dbVar;
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar; chr20:3300848-3300873 HPRC:pbsv.DEL.355
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 53869
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron20-intron33Location : intron20-intron33
CytoBand : p13
Location2 : CDS
Tx : NM_001009984
Tx_version : 3
Tx_start : 3249305
Tx_end : 3407669
Exon_count : 37
Overlapped_tx_length : 53869
Overlapped_CDS_length : 1377
Overlapped_CDS_percent : 38
Frameshift : no
Dist_nearest_SS : 173
Nearest_SS_type : 5'
Intersect_start : 3259306
Intersect_end : 3313175
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 26029
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=[...]RE_gene : ITPA (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.45; 1.02; 3.10; 0.19; 0.30
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3281257-3281315 dbVar;
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; chr20:3281258-3281315 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3285266-3285389; 20:3285399-3285695
Repeat_type_right : FLAM_C; AluSz
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 26029
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron8-intron14Location : intron8-intron14
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 26029
Overlapped_CDS_length : 569
Overlapped_CDS_percent : 31
Frameshift : yes
Dist_nearest_SS : 173
Nearest_SS_type : 5'
Intersect_start : 3259306
Intersect_end : 3285335
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 19618
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/[...]RE_gene : NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.34; 0.77; 2.33; 0.14; 0.23
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3255778-3262828 dbVar
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 19618
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.34; 0.77; 2.33; 0.14; 0.23
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3255778-3262828 dbVar
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 19618
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
exon10-intron14Location : exon10-intron14
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 19618
Overlapped_CDS_length : 418
Overlapped_CDS_percent : 23
Frameshift : yes
Dist_nearest_SS : 13
Nearest_SS_type : 5'
Intersect_start : 3259306
Intersect_end : 3278924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 19618
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
exon10-intron14Location : exon10-intron14
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 19618
Overlapped_CDS_length : 418
Overlapped_CDS_percent : 23
Frameshift : yes
Dist_nearest_SS : 13
Nearest_SS_type : 5'
Intersect_start : 3259306
Intersect_end : 3278924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11717
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/R[...]RE_gene : AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); ITPA (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.20; 0.46; 1.39; 0.08; 0.14
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3270811-3271112
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 11717
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-intron14Location : intron10-intron14
CytoBand : p13
Location2 : CDS
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 11717
Overlapped_CDS_length : 405
Overlapped_CDS_percent : 22
Frameshift : no
Dist_nearest_SS : 173
Nearest_SS_type : 5'
Intersect_start : 3259306
Intersect_end : 3271023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 28103
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.49; 1.11; 3.34; 0.20; 0.32
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.425
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 28103
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
exon10-exon18Location : exon10-exon18
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 28103
Overlapped_CDS_length : 897
Overlapped_CDS_percent : 50
Frameshift : no
Dist_nearest_SS : 13
Nearest_SS_type : 5'
Intersect_start : 3250821
Intersect_end : 3278924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 20202
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.35; 0.79; 2.40; 0.14; 0.23
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar
po_B_loss_someG_coord : chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.425
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3270811-3271112
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 20202
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-exon18Location : intron10-exon18
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 20202
Overlapped_CDS_length : 884
Overlapped_CDS_percent : 49
Frameshift : yes
Dist_nearest_SS : 461
Nearest_SS_type : 3'
Intersect_start : 3250821
Intersect_end : 3271023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 39050
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/[...]RE_gene : ITPA (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.68; 1.54; 4.65; 0.28; 0.45
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318;
po_B_loss_someG_coord : chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3239890-3239935
Repeat_type_left : (CCCCTTT)n
Gap_left : .
GC_content_left : 0.635
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 39050
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
exon10-txEndLocation : exon10-txEnd
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 29619
Overlapped_CDS_length : 897
Overlapped_CDS_percent : 50
Frameshift : no
Dist_nearest_SS : 13
Nearest_SS_type : 5'
Intersect_start : 3249305
Intersect_end : 3278924
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 31149
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv18787629; dbVar:nssv15156259; dbVar:nssv17976887
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3082631-3923294; 20:3112094-17110808; 20:3197894-11867735
po_P_loss_percent : 0.54; 1.23; 3.71; 0.22; 0.36
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3242924-3243092 dbVar; chr20:3255778-3262828 dbVar; 20:3257976-3258113 CMRI:1_pbsv.DEL.60_duplicate8; 20:3257981-3258117 esv2660318;
po_B_loss_someG_coord : chr20:3239552-3243879 dbVar; chr20:3242946-3243092 dbVar; chr20:3257540-3258114 gnomAD-SV_v3_DEL_chr20_95291eb3; chr20:3257976-3258113 HPRC:pbsv.DEL.349; chr20:3258017-3258112 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3239890-3239935
Repeat_type_left : (CCCCTTT)n
Gap_left : .
GC_content_left : 0.635
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3270811-3271112
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.510
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 31149
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron10-txEndLocation : intron10-txEnd
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_005260687
Tx_version : 6
Tx_start : 3249305
Tx_end : 3307201
Exon_count : 18
Overlapped_tx_length : 21718
Overlapped_CDS_length : 884
Overlapped_CDS_percent : 49
Frameshift : yes
Dist_nearest_SS : 461
Nearest_SS_type : 3'
Intersect_start : 3249305
Intersect_end : 3271023
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4497
Gene_count : 1
fullAnnotation_mode : full
LOC105372507Gene_name : LOC105372507;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : IDH3B-DT
Closest_right : EBF4
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425
po_P_loss_coord : 20:2482456-8205033
po_P_loss_percent : 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:2685851-2685934; 20:2685925-2686038
Repeat_type_left : Arthur1C; Arthur1B
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.570
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4497
splitAnnotation_mode : split
LOC105372507Gene_name : LOC105372507;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : p13
Location2 : UTR
Tx : XR_937210
Tx_version : 3
Tx_start : 2670276
Tx_end : 2692620
Exon_count : 3
Overlapped_tx_length : 4497
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 871
Nearest_SS_type : 5'
Intersect_start : 2685971
Intersect_end : 2690468
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 858
Gene_count : 1
fullAnnotation_mode : full
LOC107985409Gene_name : LOC107985409;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SIRPD
Closest_right : SIRPB1
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.05; 0.05; 0.05; 0.04; 0.04; 0.05; 0.05; 0.05; 0.04; 0.04; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.565
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1559450-1559605; 20:1559606-1560134
Repeat_type_right : L2; LTR45C
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 858
splitAnnotation_mode : split
LOC107985409Gene_name : LOC107985409;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : p13
Location2 : UTR
Tx : XR_007067492
Tx_version : 1
Tx_start : 1558006
Tx_end : 1561537
Exon_count : 4
Overlapped_tx_length : 858
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 311
Nearest_SS_type : 5'
Intersect_start : 1558732
Intersect_end : 1559590
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 692
Gene_count : 1
fullAnnotation_mode : full
LOC105372499Gene_name : LOC105372499;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SIRPB2
Closest_right : LOC105372498
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.04; 0.04; 0.04; 0.04; 0.03; 0.04; 0.04; 0.04; 0.03; 0.03; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:1514581-1515265
Repeat_type_left : L1ME3F
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1514581-1515265
Repeat_type_right : L1ME3F
Gap_right : .
GC_content_right : 0.465
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 692
splitAnnotation_mode : split
LOC105372499Gene_name : LOC105372499;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron2-intron2Location : intron2-intron2
CytoBand : p13
Location2 : UTR
Tx : XR_001754464
Tx_version : 2
Tx_start : 1512560
Tx_end : 1550193
Exon_count : 4
Overlapped_tx_length : 692
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1136
Nearest_SS_type : 5'
Intersect_start : 1514645
Intersect_end : 1515337
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3229
Gene_count : 1
fullAnnotation_mode : full
NSFL1CGene_name : NSFL1C;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 32.36
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
Closest_left : LOC105372497
Closest_right : SIRPB2
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.20; 0.19; 0.18; 0.17; 0.15; 0.23; 0.19; 0.18; 0.17; 0.16; 0.15; 0.17
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:1457307-1457960
Repeat_type_left : L1MA7
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1460944-1461098
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 3229
splitAnnotation_mode : split
NSFL1CGene_name : NSFL1C;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 32.36
ACMG : .
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55968
exon1-intron2Location : exon1-intron2
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_017027956
Tx_version : 2
Tx_start : 1442165
Tx_end : 1463314
Exon_count : 8
Overlapped_tx_length : 3229
Overlapped_CDS_length : 128
Overlapped_CDS_percent : 13
Frameshift : yes
Dist_nearest_SS : 56
Nearest_SS_type : 5'
Intersect_start : 1457731
Intersect_end : 1460960
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4478
Gene_count : 1
fullAnnotation_mode : full
NSFL1CGene_name : NSFL1C;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 32.36
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
Closest_left : LOC105372497
Closest_right : SIRPB2
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.28; 0.26; 0.25; 0.23; 0.20; 0.32; 0.27; 0.25; 0.24; 0.22; 0.21; 0.23
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.405
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1460944-1461098
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 4478
splitAnnotation_mode : split
NSFL1CGene_name : NSFL1C;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 32.36
ACMG : .
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55968
exon1-intron2Location : exon1-intron2
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_017027956
Tx_version : 2
Tx_start : 1442165
Tx_end : 1463314
Exon_count : 8
Overlapped_tx_length : 4478
Overlapped_CDS_length : 128
Overlapped_CDS_percent : 13
Frameshift : yes
Dist_nearest_SS : 56
Nearest_SS_type : 5'
Intersect_start : 1456482
Intersect_end : 1460960
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 13847
Gene_count : 1
fullAnnotation_mode : full
NSFL1CGene_name : NSFL1C;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 32.36
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
Closest_left : LOC105372497
Closest_right : SIRPB2
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.87; 0.80; 0.79; 0.71; 0.63; 0.99; 0.82; 0.79; 0.75; 0.67; 0.64; 0.71
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1460944-1461098
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.485
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 13847
splitAnnotation_mode : split
NSFL1CGene_name : NSFL1C;
LOEUF_bin : 3
GnomAD_pLI : 4.9492e-02
ExAC_pLI : 1.5936e-01
HI : .
TS : .
DDD_HI_percent : 32.36
ACMG : .
ExAC_cnvZ : 0.432106698788576
ExAC_delZ : 1.24447787758637
ExAC_dupZ : -0.0425980585533429
ExAC_synZ : 0.782422922884333
ExAC_misZ : 1.4972246410269
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55968
exon1-intron7Location : exon1-intron7
CytoBand : p13
Location2 : 5'UTR-CDS
Tx : XM_011529302
Tx_version : 3
Tx_start : 1442165
Tx_end : 1463315
Exon_count : 9
Overlapped_tx_length : 13847
Overlapped_CDS_length : 641
Overlapped_CDS_percent : 66
Frameshift : yes
Dist_nearest_SS : 56
Nearest_SS_type : 5'
Intersect_start : 1447113
Intersect_end : 1460960
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
PSMF1Gene_name : PSMF1;
LOEUF_bin : 8
GnomAD_pLI : 3.3092e-08
ExAC_pLI : 1.4758e-04
HI : .
TS : .
DDD_HI_percent : 36.61
ExAC_cnvZ : -0.0528609982200198
ExAC_delZ : 0.735051821765595
ExAC_dupZ : -0.434111525688013
ExAC_synZ : 1.40879015409943
ExAC_misZ : -0.746506510611992
Closest_left : LOC105372493
Closest_right : LOC124904855
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.04; 0.04; 0.04; 0.03; 0.03; 0.03; 0.03; 0.02; 0.04; 0.04; 0.03; 0.03; 0.03; 0.02; 0.02; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1146682-1146877
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
PSMF1Gene_name : PSMF1;
LOEUF_bin : 8
GnomAD_pLI : 3.3092e-08
ExAC_pLI : 1.4758e-04
HI : .
TS : .
DDD_HI_percent : 36.61
ACMG : .
ExAC_cnvZ : -0.0528609982200198
ExAC_delZ : 0.735051821765595
ExAC_dupZ : -0.434111525688013
ExAC_synZ : 1.40879015409943
ExAC_misZ : -0.746506510611992
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9491
intron4-intron4Location : intron4-intron4
CytoBand : p13
Location2 : CDS
Tx : NM_001323407
Tx_version : 2
Tx_start : 1113262
Tx_end : 1172246
Exon_count : 7
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11115
Nearest_SS_type : 5'
Intersect_start : 1146421
Intersect_end : 1146921
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
PSMF1Gene_name : PSMF1;
LOEUF_bin : 8
GnomAD_pLI : 3.3092e-08
ExAC_pLI : 1.4758e-04
HI : .
TS : .
DDD_HI_percent : 36.61
ExAC_cnvZ : -0.0528609982200198
ExAC_delZ : 0.735051821765595
ExAC_dupZ : -0.434111525688013
ExAC_synZ : 1.40879015409943
ExAC_misZ : -0.746506510611992
Closest_left : LOC105372493
Closest_right : LOC124904855
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.09; 0.09; 0.08; 0.06; 0.06; 0.06; 0.05; 0.05; 0.08; 0.07; 0.06; 0.06; 0.05; 0.05; 0.05; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1146682-1146877
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.370
full=3ACMG_class : full=3
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
PSMF1Gene_name : PSMF1;
LOEUF_bin : 8
GnomAD_pLI : 3.3092e-08
ExAC_pLI : 1.4758e-04
HI : .
TS : .
DDD_HI_percent : 36.61
ACMG : .
ExAC_cnvZ : -0.0528609982200198
ExAC_delZ : 0.735051821765595
ExAC_dupZ : -0.434111525688013
ExAC_synZ : 1.40879015409943
ExAC_misZ : -0.746506510611992
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9491
intron4-intron4Location : intron4-intron4
CytoBand : p13
Location2 : CDS
Tx : NM_001323407
Tx_version : 2
Tx_start : 1113262
Tx_end : 1172246
Exon_count : 7
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 10615
Nearest_SS_type : 5'
Intersect_start : 1145921
Intersect_end : 1146921
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1819
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02970
Closest_right : LOC124904948
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202
po_P_loss_percent : 0.10; 0.13; 0.10; 0.11; 0.11; 0.11; 0.11; 0.11
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62606581-62606638
Repeat_type_left : A-rich
Gap_left : .
GC_content_left : 0.620
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62608216-62608530; 20:62608531-62608836
Repeat_type_right : L1MD3; AluSq2
Gap_right : .
GC_content_right : 0.490
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2319
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC02970
Closest_right : LOC124904948
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908; dbVar:nssv15137506
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321; 20:62582074-64284202
po_P_loss_percent : 0.12; 0.17; 0.13; 0.15; 0.14; 0.13; 0.14; 0.14
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62606580-62606602 HPRC:pbsv.DEL.5224
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62608216-62608530; 20:62608531-62608836
Repeat_type_right : L1MD3; AluSq2
Gap_right : .
GC_content_right : 0.490
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 995
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR133A2
Closest_right : LINC02970
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321
po_P_loss_percent : 0.05; 0.07; 0.05; 0.06; 0.06; 0.06; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62571685-62571719
Repeat_type_left : (CCCTT)n
Gap_left : .
GC_content_left : 0.590
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62572082-62572617
Repeat_type_right : L1MC5
Gap_right : .
GC_content_right : 0.540
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4399
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR133A2
Closest_right : LINC02970
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbi[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321
po_P_loss_percent : 0.24; 0.32; 0.24; 0.28; 0.26; 0.25; 0.26
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:62574396-62575647 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62570948-62571418
Repeat_type_left : (AC)n
Gap_left : .
GC_content_left : 0.595
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.575
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2874
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR133A2
Closest_right : LINC02970
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morb[...]RE_gene : SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983; dbVar:nssv15134318; dbVar:nssv16209004; dbVar:nssv15131908
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639; 20:62545371-64241486; 20:62555115-64284202; 20:62561795-64277321
po_P_loss_percent : 0.15; 0.21; 0.16; 0.18; 0.17; 0.17; 0.17
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62570948-62571418
Repeat_type_left : (AC)n
Gap_left : .
GC_content_left : 0.595
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62574164-62574300; 20:62574314-62574497
Repeat_type_right : MLT1K; GA-rich
Gap_right : .
GC_content_right : 0.530
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372711
Closest_right : LOC124904947
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969253; dbVar:nssv15132223; dbVar:nssv17955968; dbVar:nssv17955983
po_P_loss_coord : 20:62428208-64284202; 20:62455232-63839491; 20:62463497-64276226; 20:62466426-64049639
po_P_loss_percent : 0.05; 0.07; 0.06; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.670
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62493897-62494350; 20:62494385-62494548
Repeat_type_right : MLT1D; MIRb
Gap_right : .
GC_content_right : 0.505
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 9599
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:61045957-61046032 HPRC:pbsv.DEL.4719; chr20:61045964-61046114 HPRC:pbsv.DEL.4720;
po_B_loss_someG_coord : 20:61045957-61046032 CMRI:1_pbsv.DEL.784_duplicate7; 20:61045964-61046114 CMRI:0_pbsv.DEL.815_duplicate6; 20:61045965-61046114 esv2659648
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:61050048-61050593
Repeat_type_right : L3
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1026
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.585
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.625
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 10642
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:60931394-60936066 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60927246-60927721
Repeat_type_left : L1MC3
Gap_left : .
GC_content_left : 0.275
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60937893-60937918
Repeat_type_right : (A)n
Gap_right : .
GC_content_right : 0.480
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 16442
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:60931394-60936066 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60937893-60937918
Repeat_type_right : (A)n
Gap_right : .
GC_content_right : 0.480
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 7225
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.540
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 918
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.470
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 24384
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:60931394-60936066 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.430
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60937893-60937918
Repeat_type_right : (A)n
Gap_right : .
GC_content_right : 0.480
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5994
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:60899375-60908586 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60910366-60910545; 20:60910549-60910999
Repeat_type_right : MLT1B; MLT1C
Gap_right : .
GC_content_right : 0.475
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1414
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337
Repeat_type_right : AluJb; L1ME4c
Gap_right : .
GC_content_right : 0.415
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6206
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : 20:60895478-60895555 CMRI:3_pbsv.DEL.1306_duplicate5
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60889604-60890048
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60895400-60895699; 20:60895700-60895747; 20:60895748-60896096
Repeat_type_right : (TGA)n; (ATGGTG)n; (TGA)n
Gap_right : .
GC_content_right : 0.410
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3083
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60889604-60890048
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60892707-60893169
Repeat_type_right : MLT1D
Gap_right : .
GC_content_right : 0.445
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5714
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60887433-60887913; 20:60887921-60888224
Repeat_type_right : L1ME3Cz; AluY
Gap_right : .
GC_content_right : 0.445
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3170
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60737171-60737554; 20:60737555-60738173
Repeat_type_left : MSTA; L1ME3A
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60739780-60741247
Repeat_type_right : L1MB7
Gap_right : .
GC_content_right : 0.340
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1893
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60737171-60737554; 20:60737555-60738173
Repeat_type_left : MSTA; L1ME3A
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60739151-60739774
Repeat_type_right : L1ME1
Gap_right : .
GC_content_right : 0.310
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6750
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.470
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60739780-60741247
Repeat_type_right : L1MB7
Gap_right : .
GC_content_right : 0.340
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 272
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.470
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60734104-60734266
Repeat_type_right : MER5A1
Gap_right : .
GC_content_right : 0.555
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4118
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60707562-60707996; 20:60708009-60708944
Repeat_type_left : Tigger1; L1PA3
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60711132-60712830
Repeat_type_right : L1MC3
Gap_right : .
GC_content_right : 0.275
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5877
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60705278-60706242; 20:60706252-60706486
Repeat_type_left : L1MC3; L1MC3
Gap_left : .
GC_content_left : 0.315
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60711132-60712830
Repeat_type_right : L1MC3
Gap_right : .
GC_content_right : 0.340
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3350
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60578418-60578681
Repeat_type_left : MER4D1
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60581505-60582037
Repeat_type_right : MLT1F1
Gap_right : .
GC_content_right : 0.525
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 594
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR548AG2
Closest_right : LOC105372699
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60578418-60578681
Repeat_type_left : MER4D1
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60578682-60579142; 20:60579143-60579792
Repeat_type_right : LTR2; MER4D1
Gap_right : .
GC_content_right : 0.475
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1697
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : VAPB
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58455287-58455685; 20:58455707-58455755
Repeat_type_left : HAL1; L2b
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.590
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 667
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : VAPB
Closest_right : APCDD1L
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17969248
po_P_loss_coord : 20:56717150-59291310
po_P_loss_percent : 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58455287-58455685
Repeat_type_left : HAL1
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58455942-58456235; 20:58456236-58456264; 20:58456334-58456401
Repeat_type_right : AluSc8; (T)n; MIR3
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4843
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372683
Closest_right : LOC105372685
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248
po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310
po_P_loss_percent : 0.13; 0.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:57012323-57012824 HPRC:pbsv.DEL.4330; 20:57012324-57012824 esv2662836; chr20:57012329-57012824 gnomAD-SV_v3_DEL_chr20_58eefe8b; chr20:57012347-57012889 dbVar; 20:57012348-57012889 esv3646206;
po_B_loss_someG_coord : 20:57012323-57012824 CMRI:2_pbsv.DEL.1025_duplicate10; 20:57012324-57012824 DDD:55085; chr20:57012329-57012824 dbVar; 20:57012330-57012824 IMH; 20:57012348-57012889 1000g; chr20:57012453-57012519 gnomAD-SV_v3_DEL_chr20_0acdc3ab
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.500
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:57014272-57014386
Repeat_type_right : L1ME4b
Gap_right : .
GC_content_right : 0.385
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 7386
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TFAP2C
Closest_right : LOC105372683
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248
po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310
po_P_loss_percent : 0.21; 0.29
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:56795832-56796141; 20:56796142-56796294
Repeat_type_left : AluSz; L2b
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:56803524-56803827
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.550
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2214
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TFAP2C
Closest_right : LOC105372683
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248
po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310
po_P_loss_percent : 0.06; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:56795832-56796141; 20:56796142-56796294
Repeat_type_left : AluSz; L2b
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:56798127-56798529
Repeat_type_right : L2c
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 10098
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TFAP2C
Closest_right : LOC105372683
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248
po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310
po_P_loss_percent : 0.28; 0.39
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:56794858-56795995 dbVar
po_B_loss_someG_coord : chr20:56794736-56795934 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.510
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:56803524-56803827
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.550
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 67563
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TFAP2C
Closest_right : LOC105372683
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174; dbVar:nssv17969248
po_P_loss_coord : 20:54594889-58190583; 20:56717150-59291310
po_P_loss_percent : 1.88; 2.62
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:56732944-56737944 dbVar; chr20:56744794-56744935 dbVar; chr20:56744880-56744912 HPRC:pbsv.DEL.4311; chr20:56761591-56761644 dbVar; chr20:56769652-56778095 dbVar; 20:56782019-56782151 CMRI:2_pbsv.DEL.1021_duplicate11; 20:56782070-56782130 CMRI:3_pbsv.DEL.1180_duplicate6; chr20:56782070-56782130 dbVar; chr20:56784619-56789731 dbVar; chr20:56794736-56795934 dbVar;
po_B_loss_someG_coord : chr20:56725113-56737922 dbVar; 20:56744671-56744888 CMRI:22_pbsv.DEL.1045_duplicate6; chr20:56744841-56744947 dbVar; 20:56761591-56761644 1000g; chr20:56765644-56771344 dbVar; chr20:56779924-56779998 dbVar; chr20:56782042-56782142 HPRC:pbsv.DEL.4314; chr20:56782070-56782130 HPRC:pbsv.DEL.4315; chr20:56782106-56782130 HPRC:pbsv.DEL.4317; chr20:56785162-56790060 dbVar; chr20:56794858-56795995 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:56735861-56735886; 20:56735924-56736220
Repeat_type_left : (CCCCCA)n; AluSz
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:56803524-56803827
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.550
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372678
Closest_right : CBLN4
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.425
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:55915345-55915418
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372678
Closest_right : CBLN4
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:55913456-55913767
Repeat_type_left : AluSx1
Gap_left : .
GC_content_left : 0.490
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:55914285-55914511
Repeat_type_right : MIR
Gap_right : .
GC_content_right : 0.525
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8423
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372678
Closest_right : CBLN4
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.23
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:55911834-55911906 HPRC:pbsv.DEL.4249
po_B_loss_someG_coord : 20:55911834-55911906 CMRI:3_pbsv.DEL.1153_duplicate5
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:55909959-55910164; 20:55910242-55910417
Repeat_type_left : MLT1D; MLT1D
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:55918569-55918767; 20:55918743-55918800
Repeat_type_right : MIRb; MIRb
Gap_right : .
GC_content_right : 0.345
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 21585
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372678
Closest_right : CBLN4
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.60
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:55911834-55911906 HPRC:pbsv.DEL.4249; chr20:55925595-55925689 dbVar
po_B_loss_someG_coord : 20:55911834-55911906 CMRI:3_pbsv.DEL.1153_duplicate5; chr20:55921777-55922246 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 864
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372678
Closest_right : CBLN4
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:55909420-55909948
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.340
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 12009
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372678
Closest_right : CBLN4
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.33
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:55911834-55911906 HPRC:pbsv.DEL.4249
po_B_loss_someG_coord : 20:55911834-55911906 CMRI:3_pbsv.DEL.1153_duplicate5
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:55906403-55906692
Repeat_type_left : L1M5
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:55918569-55918767; 20:55918743-55918800
Repeat_type_right : MIRb; MIRb
Gap_right : .
GC_content_right : 0.345
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 830
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DOK5
Closest_right : LINC01441
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:55099014-55099519; 20:55099532-55099998
Repeat_type_left : L1MD1; MLT1D
Gap_left : .
GC_content_left : 0.440
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:55100079-55100639
Repeat_type_right : MLT2B3
Gap_right : .
GC_content_right : 0.555
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DOK5
Closest_right : LINC01441
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:55030108-55035149
Repeat_type_left : MER66-int
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:55030108-55035149
Repeat_type_right : MER66-int
Gap_right : .
GC_content_right : 0.395
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 14881
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DOK5
Closest_right : LINC01441
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15122174
po_P_loss_coord : 20:54594889-58190583
po_P_loss_percent : 0.41
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:54943668-54944597; 20:54944602-54946289
Repeat_type_left : L1ME1; L1M4c
Gap_left : .
GC_content_left : 0.315
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:54958571-54959640; 20:54959639-54959861
Repeat_type_right : Tigger1; Tigger1
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5168
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105376985
Closest_right : LOC105372668
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150235
po_P_loss_coord : 20:49011308-53428941
po_P_loss_percent : 0.12
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.405
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:52835660-52835768; 20:52835804-52835860; 20:52835868-52836151
Repeat_type_right : L2c; MER33; AluSq
Gap_right : .
GC_content_right : 0.485
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105376985
Closest_right : LOC105372668
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150235
po_P_loss_coord : 20:49011308-53428941
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.405
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:52831091-52831391
Repeat_type_right : AluJb
Gap_right : .
GC_content_right : 0.440
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : ZFP64
Closest_right : LOC105372666
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150235; dbVar:nssv15134928
po_P_loss_coord : 20:49011308-53428941; 20:50781991-52792847
po_P_loss_percent : 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:52194496-52194778
Repeat_type_left : AluSx
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:52194899-52195026; 20:52195055-52195307
Repeat_type_right : MER5A; MIR
Gap_right : .
GC_content_right : 0.445
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 477
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR3194
Closest_right : ATP9A
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150235; dbVar:nssv15150226; dbVar:nssv15134928
po_P_loss_coord : 20:49011308-53428941; 20:49109985-51811110; 20:50781991-52792847
po_P_loss_percent : 0.01; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:51589521-51589831
Repeat_type_left : AluSx
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:51589843-51590125; 20:51590126-51590170; 20:51590194-51590264
Repeat_type_right : AluJr4; L1MB3; L2c
Gap_right : .
GC_content_right : 0.360
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 301
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372651
Closest_right : LOC124904926
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ZNFX1 (morbid/RE=EA_enhancer); RE_gene : ZNFX1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.01; 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49626500-49626972
Repeat_type_left : MER21A
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49626974-49627247; 20:49627249-49627369
Repeat_type_right : AluSz; MIR3
Gap_right : .
GC_content_right : 0.515
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC107985439
Closest_right : LOC105372647
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881
po_P_loss_coord : 20:44356405-49982509
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:48484236-48521067; 20:48492453-48521067; 20:48492464-48520378
Repeat_coord_left : 20:48494260-48494309; 20:48494344-48494671
Repeat_type_left : U7; L2a
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:48484236-48521067; 20:48492453-48521067; 20:48492464-48520378
Repeat_coord_right : 20:48494344-48494671
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.555
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 969
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : WFDC12
Closest_right : LOC101929863
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.01; 0.01; 0.01; 0.04; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:45130959-45131442
Repeat_type_left : L1MB1
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:45131947-45132117
Repeat_type_right : L1MC4
Gap_right : .
GC_content_right : 0.320
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3584
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : WFDC12
Closest_right : LOC101929863
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.02; 0.03; 0.03; 0.15; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:45129166-45129476
Repeat_type_left : AluSz
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:45132121-45133785
Repeat_type_right : L1MA8
Gap_right : .
GC_content_right : 0.365
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 255
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : RIMS4
Closest_right : YWHAB
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.00; 0.00; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:44839037-44839334
Repeat_type_left : AluSx
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:44839404-44839485
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.400
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 755
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : RIMS4
Closest_right : YWHAB
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.01; 0.01; 0.03; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:44838382-44838829
Repeat_type_left : MLT1J
Gap_left : .
GC_content_left : 0.425
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:44839404-44839485
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.400
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372625
Closest_right : LOC124904907
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
HNF4A (morbid/RE=EA_enhancer); RE_gene : HNF4A (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118
po_P_loss_percent : 0.01; 0.01; 0.01; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:43847539-43852000 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43850488-43850788; 20:43850823-43850969
Repeat_type_left : AluSx1; L2c
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43851918-43852230; 20:43852231-43852458
Repeat_type_right : AluYb8; L1MC4
Gap_right : .
GC_content_right : 0.560
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 16805
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372625
Closest_right : LOC124904907
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
HNF4A (morbid/RE=EA_enhancer); RE_gene : HNF4A (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118
po_P_loss_percent : 0.11; 0.14; 0.14; 0.70
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:43839139-43844443 dbVar; chr20:43847539-43852000 dbVar
po_B_loss_someG_coord : chr20:43836865-43841581 dbVar; chr20:43840265-43840331 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43835407-43835474
Repeat_type_left : MER5A
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43851918-43852230; 20:43852231-43852458
Repeat_type_right : AluYb8; L1MC4
Gap_right : .
GC_content_right : 0.560
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 4764
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124900461
Closest_right : SRSF6
.Location : .
CytoBand : q13.11
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.03; 0.04; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:43378096-43378122 HPRC:pbsv.DEL.3291
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43374369-43374657; 20:43374777-43375097
Repeat_type_left : AluSq2; L1M6
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43379330-43379521; 20:43379561-43380020
Repeat_type_right : L3; MLT1H
Gap_right : .
GC_content_right : 0.305
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 34009
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.22; 0.27; 0.29
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:40944561-40944635 dbVar
po_B_loss_someG_coord : chr20:40900119-40913267 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40909467-40911035
Repeat_type_left : LTR12C
Gap_left : .
GC_content_left : 0.690
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40944787-40945094
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.575
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 57283
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.37; 0.46; 0.48
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:40758890-40760417 dbVar; chr20:40776196-40776350 dbVar
po_B_loss_someG_coord : chr20:40758639-40761519 dbVar; chr20:40758924-40760419 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40790195-40790375
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.365
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 37846
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.25; 0.31; 0.32
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:40758890-40760417 dbVar;
po_B_loss_someG_coord : chr20:40758639-40761519 dbVar; chr20:40758924-40760419 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.605
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 24685
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.16; 0.20; 0.21
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40757465-40757979
Repeat_type_right : MLT1F
Gap_right : .
GC_content_right : 0.510
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 15866
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.10; 0.13; 0.13
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40748904-40749123
Repeat_type_right : MamRep564
Gap_right : .
GC_content_right : 0.490
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11130
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.07; 0.09; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40744015-40744081
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.465
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6264
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.04; 0.05; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2717
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.02; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.380
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40732950-40733639
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40732950-40733639
Repeat_type_right : L1M6
Gap_right : .
GC_content_right : 0.345
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 8709
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.06; 0.07; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40730200-40730687
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.385
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5162
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.03; 0.04; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40730200-40730687
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.380
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2945
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SNORD154
Closest_right : LOC100128988
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.02; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:40730200-40730687
Repeat_type_left : L1M6
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:40732950-40733639
Repeat_type_right : L1M6
Gap_right : .
GC_content_right : 0.345
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 11413
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC102724950
Closest_right : LOC105372614
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.07; 0.09; 0.10
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:39748670-39748753 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:39740312-39742226
Repeat_type_left : L1PA2
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:39752281-39752754
Repeat_type_right : LTR50
Gap_right : .
GC_content_right : 0.455
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 22823
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC102724950
Closest_right : LOC105372614
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.15; 0.18; 0.19
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 20:39708990-39709127 CMRI:0_pbsv.DEL.522_duplicate10; 20:39708991-39709127 1000g; chr20:39709005-39709127 gnomAD-SV_v3_DEL_chr20_749d8b59; chr20:39721293-39721422 dbVar
po_B_loss_someG_coord : chr20:39704716-39713672 dbVar; chr20:39708990-39709127 HPRC:pbsv.DEL.3103; chr20:39708991-39709127 dbVar; chr20:39721131-39726741 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:39727246-39727541
Repeat_type_right : MLT1J1
Gap_right : .
GC_content_right : 0.405
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 852
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SRC
Closest_right : BLCAP
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:37464129-37464240
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.565
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:37465057-37465263
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.590
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6337
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904980
Closest_right : PHF20
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.04; 0.19; 0.05; 0.33
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35743262-35743397
Repeat_type_left : MIRc
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35749363-35749642; 20:35749737-35750040
Repeat_type_right : AluJr; AluSq
Gap_right : .
GC_content_right : 0.320
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 7597
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : C20orf173
Closest_right : ERGIC3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; dbVar:nssv15148150; dbVar:nssv15138536
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:35237947-47631818; 20:35285725-35744837
po_P_loss_percent : 0.05; 0.25; 0.22; 0.06; 1.65
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:35539312-35539335 HPRC:pbsv.DEL.2789
po_B_loss_someG_coord : chr20:35539287-35539335 HPRC:pbsv.DEL.2788
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35533168-35533462; 20:35533533-35533832
Repeat_type_left : AluSc; AluSx
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35540759-35541031
Repeat_type_right : L1MC5a
Gap_right : .
GC_content_right : 0.300
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 864
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : AHCY
Closest_right : ITCH
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.01; 0.03; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34327273-34328733
Repeat_type_left : L1PA6
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.310
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1490
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : EIF2S2
Closest_right : ASIP
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.01; 0.05; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34115867-34115991
Repeat_type_left : FLAM_C
Gap_left : .
GC_content_left : 0.400
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:34117328-34117745
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.360
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 15861
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : CHMP4B
Closest_right : RALY-AS1
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.10; 0.51; 0.47
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33961577-33970207 dbVar; chr20:33962901-33970061 dbVar; chr20:33964424-33966604 dbVar;
po_B_loss_someG_coord : chr20:33961247-33961543 dbVar; chr20:33961587-33970304 dbVar; chr20:33963330-33963446 dbVar; chr20:33964446-33966614 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33954105-33954138; 20:33954139-33954449
Repeat_type_left : (TTTA)n; AluSz
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33969716-33969941
Repeat_type_right : Charlie8
Gap_right : .
GC_content_right : 0.445
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 13445
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : C20orf203
Closest_right : COMMD7
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbi[...]RE_gene : POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.09; 0.43
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:32688121-32688141 HPRC:pbsv.DEL.2590
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32691534-32691824
Repeat_type_right : AluSx3
Gap_right : .
GC_content_right : 0.395
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3658
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : C20orf203
Closest_right : COMMD7
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbi[...]RE_gene : POFUT1 (morbid/RE=EA_enhancer); DNMT3B (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.02; 0.12
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.570
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 383
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1825
Closest_right : LOC124904885
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240
po_P_loss_coord : 20:32236739-47669019
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32245692-32246001; 20:32246005-32246303
Repeat_type_left : AluSz; AluSc
Gap_left : .
GC_content_left : 0.450
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32246304-32246460; 20:32246461-32246663
Repeat_type_right : AluJb; L2a
Gap_right : .
GC_content_right : 0.495
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2731
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1825
Closest_right : LOC124904885
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240
po_P_loss_coord : 20:32236739-47669019
po_P_loss_percent : 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:32247651-32256085 dbVar
po_B_loss_someG_coord : chr20:32247406-32248587 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32245340-32245655; 20:32245692-32246001
Repeat_type_left : AluSx; AluSz
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32248254-32248412; 20:32248413-32248705
Repeat_type_right : AluJr; AluSc
Gap_right : .
GC_content_right : 0.550
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1185
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1825
Closest_right : LOC124904885
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240
po_P_loss_coord : 20:32236739-47669019
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32245340-32245655; 20:32245692-32246001
Repeat_type_left : AluSx; AluSz
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32246773-32246903; 20:32246908-32247179
Repeat_type_right : AluSx3; AluJb
Gap_right : .
GC_content_right : 0.510
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 738
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR1825
Closest_right : LOC124904885
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240
po_P_loss_coord : 20:32236739-47669019
po_P_loss_percent : 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32245340-32245655; 20:32245692-32246001
Repeat_type_left : AluSx; AluSz
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32246304-32246460; 20:32246461-32246663
Repeat_type_right : AluJb; L2a
Gap_right : .
GC_content_right : 0.495
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TPX2
Closest_right : MYLK2
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:31813971-31814048; 20:31814058-31814367
Repeat_type_left : MER5A; AluSz
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:31814058-31814367
Repeat_type_right : AluSz
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 6144
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904986
Closest_right : LOC124904970
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : 20:30761899-30811898
GC_content_left : 0.000 (200 N)
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : 20:30761899-30811898
GC_content_right : 0.000 (200 N)
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2975
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MLLT10P1
Closest_right : LOC105379481
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : 20:30425129-30456077
GC_content_left : 0.000 (200 N)
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : 20:30425129-30456077
GC_content_right : 0.000 (200 N)
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 5807
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904968
Closest_right : LINC01597
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : 20:29893490-29894014 IMH
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:29884851-29900750
Repeat_type_left : ALR/Alpha
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:29884851-29900750
Repeat_type_right : ALR/Alpha
Gap_right : .
GC_content_right : 0.375
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904968
Closest_right : LINC01597
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:29884851-29900750
Repeat_type_left : ALR/Alpha
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:29884851-29900750
Repeat_type_right : ALR/Alpha
Gap_right : .
GC_content_right : 0.390
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 10363
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FAM242B
Closest_right : LOC124904968
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:29631246-29631338 HPRC:pbsv.DEL.2084
po_B_loss_someG_coord : 20:29631246-29631338 CMRI:11_pbsv.DEL.714_duplicate9
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475
Repeat_coord_left : 20:29623269-29625491
Repeat_type_left : L1PA5
Gap_left : .
GC_content_left : 0.370
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475; 20:29631543-29667301
Repeat_coord_right : 20:29633964-29634067
Repeat_type_right : MLT1D
Gap_right : .
GC_content_right : 0.315
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3244
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FAM242B
Closest_right : LOC124904968
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.310
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 22558
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FAM242B
Closest_right : LOC124904968
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:29631246-29631338 HPRC:pbsv.DEL.2084
po_B_loss_someG_coord : 20:29631246-29631338 CMRI:11_pbsv.DEL.714_duplicate9
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475
Repeat_coord_left : 20:29610692-29612691
Repeat_type_left : L1ME3
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:29582806-29636162; 20:29582806-29679736; 20:29582806-29687511; 20:29582806-29687523; 20:29582806-29687523; 20:29604808-29674475; 20:29631543-29667301
Repeat_coord_right : 20:29633964-29634067
Repeat_type_right : MLT1D
Gap_right : .
GC_content_right : 0.315
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 987
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01431
Closest_right : GZF1
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690
po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817
po_P_loss_percent : 0.01; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:23359722-23359875; 20:23359876-23360169
Repeat_type_left : AluSx1; AluSx
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:23360500-23361161
Repeat_type_right : MER67C
Gap_right : .
GC_content_right : 0.415
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1889
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372558
Closest_right : LOC112268271
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.01; 0.03; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21492846-21493090
Repeat_type_left : MIR
Gap_left : .
GC_content_left : 0.380
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21493993-21494734
Repeat_type_right : L1MC4a
Gap_right : .
GC_content_right : 0.305
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2389
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372558
Closest_right : LOC112268271
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.02; 0.03; 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21492288-21492470
Repeat_type_left : FAM
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21493993-21494734
Repeat_type_right : L1MC4a
Gap_right : .
GC_content_right : 0.305
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : INSM1
Closest_right : RALGAPA2
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.00; 0.01; 0.01; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.575
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20373787-20373864
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.525
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3110
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372548
Closest_right : SNX5
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459; 20:17772772-21426789
po_P_loss_percent : 0.02; 0.54; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:17929144-17929296
Repeat_type_left : MER5A
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:17932128-17932500
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.425
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1510
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372548
Closest_right : SNX5
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965; dbVar:nssv15134157
po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459; 20:17772772-21426789
po_P_loss_percent : 0.01; 0.26; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:17922287-17922720
Repeat_type_left : MLT2B1
Gap_left : .
GC_content_left : 0.455
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:17923992-17924284
Repeat_type_right : L1ME3G
Gap_right : .
GC_content_right : 0.295
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DSTN
Closest_right : RRBP1
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv18787965
po_P_loss_coord : 20:8591050-22108012; 20:17607038-18187459
po_P_loss_percent : 0.00; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.590
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1973
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372542
Closest_right : SNRPB2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:16718978-16719288; 20:16719289-16719390
Repeat_type_left : AluJb; MLT1G3
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:16721199-16721338
Repeat_type_right : MIR3
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2G (cf po_B_loss_someG_source, +0.00): Overlaps an established benign CNV, but includes additional genomic material.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 9157
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372542
Closest_right : SNRPB2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.07; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:16710285-16713588 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:16721199-16721338
Repeat_type_right : MIR3
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 914
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01723
Closest_right : SPTLC3
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv15146659; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:6617696-13392559; 20:8591050-22108012
po_P_loss_percent : 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:12989317-12989620
Repeat_type_left : AluSc8
Gap_left : .
GC_content_left : 0.475
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:12990317-12990458
Repeat_type_right : MIRc
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TMX4-AS1
Closest_right : PLCB1
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15143162; dbVar:nssv15132301; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv15774578; dbVar:nssv16596279
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6162533-8630887; 20:6336608-8577546; 20:6617696-13392559; 20:7566645-11028694; 20:8109308-8592318; 20:8113403-8599637
po_P_loss_percent : 0.01; 0.00; 0.01; 0.01; 0.02; 0.02; 0.01; 0.01; 0.10; 0.10
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:8130680-8131298
Repeat_type_left : L1ME1
Gap_left : .
GC_content_left : 0.330
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:8130680-8131298
Repeat_type_right : L1ME1
Gap_right : .
GC_content_right : 0.345
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 854
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LINC01713
Closest_right : LOC105372517
.Location : .
CytoBand : p12.3
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999; dbVar:nssv16213886; dbVar:nssv15143162; dbVar:nssv15132301; dbVar:nssv15146659; dbVar:nssv15139599
po_P_loss_coord : 20:2482456-8205033; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121; 20:6034465-6779089; 20:6162533-8630887; 20:6336608-8577546; 20:6617696-13392559; 20:6733291-7323342
po_P_loss_percent : 0.01; 0.01; 0.01; 0.03; 0.01; 0.11; 0.03; 0.04; 0.01; 0.14
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:6750138-6750432; 20:6750433-6750644
Repeat_type_left : AluJb; HAL1b
Gap_left : .
GC_content_left : 0.295
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:6751147-6751443
Repeat_type_right : L1M5
Gap_right : .
GC_content_right : 0.245
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PRNP
Closest_right : PRND
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121
po_P_loss_percent : 0.02; 0.04; 0.01; 0.01; 0.04; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:4712344-4712620
Repeat_type_left : L4_C_Mam
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.520
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PRNP
Closest_right : PRND
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15135955; dbVar:nssv15149999
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:4343034-6911730; 20:4412284-12687121
po_P_loss_percent : 0.01; 0.02; 0.00; 0.01; 0.02; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:4712344-4712620
Repeat_type_left : L4_C_Mam
Gap_left : .
GC_content_left : 0.445
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:4712896-4713306
Repeat_type_right : L1PA8
Gap_right : .
GC_content_right : 0.490
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 775
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TMEM239
Closest_right : PCED1A
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425
po_P_loss_coord : 20:2482456-8205033
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_loss_source : .
B_loss_coord : .
B_loss_AFmax : .
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.735
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:2822072-2822095
Repeat_type_right : (G)n
Gap_right : .
GC_content_right : 0.525
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
2J (NFS1, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown.
2L (RBM39, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (4 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 49220
Gene_count : 4
fullAnnotation_mode : full
NFS1; ROMO1; RBM39; LOC124904980; [...4genes]Gene_name : NFS1; ROMO1; RBM39; LOC124904980;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 16.38
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.23842297557016
ExAC_synZ : 1.38318761602961
ExAC_misZ : 4.74208284095117
Closest_left : RBM12
Closest_right : PHF20
.Location : .
CytoBand : q11.22
603485; OMIM_ID : 603485;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GSS (morbid/RE=EA_enhancer); RE_gene : GSS (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.08; 0.08; 0.08; 0.08; 0.08; 0.17; 0.34; 0.75; 0.99; 0.94; 1.28
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:35712313-35727658 dbVar
po_B_gain_someG_coord : chr20:35688109-35689678 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.475
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35724050-35724345
Repeat_type_right : AluSx1
Gap_right : .
GC_content_right : 0.355
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 49220
splitAnnotation_mode : split
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ACMG : .
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206
NCBI_gene_ID : 9054
txStart-intron7Location : txStart-intron7
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : NM_021100
Tx_version : 5
Tx_start : 35668051
Tx_end : 35699352
Exon_count : 13
Overlapped_tx_length : 24148
Overlapped_CDS_length : 790
Overlapped_CDS_percent : 57
Frameshift : yes
Dist_nearest_SS : 2
Nearest_SS_type : 3'
Intersect_start : 35675204
Intersect_end : 35699352
603485; OMIM_ID : 603485;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 49220
splitAnnotation_mode : split
ROMO1Gene_name : ROMO1;
LOEUF_bin : 7
GnomAD_pLI : 2.3400e-01
ExAC_pLI : 7.2681e-01
HI : .
TS : .
DDD_HI_percent : 11.99
ACMG : .
ExAC_cnvZ : -1.29962656319736
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.23842297557016
ExAC_synZ : 1.38318761602961
ExAC_misZ : 1.67828870198139
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140823
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : 5'UTR-3'UTR
Tx : NM_080748
Tx_version : 3
Tx_start : 35699404
Tx_end : 35700980
Exon_count : 3
Overlapped_tx_length : 1576
Overlapped_CDS_length : 240
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35699404
Intersect_end : 35700980
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 49220
splitAnnotation_mode : split
RBM39Gene_name : RBM39;
LOEUF_bin : 0
GnomAD_pLI : 9.9981e-01
ExAC_pLI : 1.0000e+00
HI : .
TS : .
DDD_HI_percent : 10.32
ACMG : .
ExAC_cnvZ : -0.976681088510344
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.883942004793881
ExAC_synZ : 0.688976679304137
ExAC_misZ : 4.74208284095117
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9584
intron8-txEndLocation : intron8-txEnd
CytoBand : q11.22
Location2 : CDS-3'UTR
Tx : XM_006723891
Tx_version : 5
Tx_start : 35701346
Tx_end : 35740892
Exon_count : 17
Overlapped_tx_length : 23078
Overlapped_CDS_length : 906
Overlapped_CDS_percent : 80
Frameshift : no
Dist_nearest_SS : 145
Nearest_SS_type : 5'
Intersect_start : 35701346
Intersect_end : 35724424
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 49220
splitAnnotation_mode : split
LOC124904980Gene_name : LOC124904980;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : UTR
Tx : XR_007067771
Tx_version : 1
Tx_start : 35716470
Tx_end : 35716570
Exon_count : 1
Overlapped_tx_length : 100
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35716470
Intersect_end : 35716570
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:35712313-35727658
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (DIDO1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (4 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 43207
Gene_count : 4
fullAnnotation_mode : full
TCFL5; LOC105372717; DIDO1; SNORA117; [...4genes]Gene_name : TCFL5; LOC105372717; DIDO1; SNORA117;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 83.17
ExAC_cnvZ : 0.329147917438777
ExAC_delZ : 0.377892107975703
ExAC_dupZ : 0.202879206019464
ExAC_synZ : 2.74858459795657
ExAC_misZ : 3.20419634105341
Closest_left : COL9A3
Closest_right : GID8
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); RTEL1 (morbid[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); RTEL1 (morbid/RE=EA_enhancer); EEF1A2 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.07; 0.07; 0.07; 0.07; 0.07; 0.22; 0.38; 0.39; 0.39; 0.54; 0.53; 0.69; 0.61; 0.73; 0.72; 0.83; 1.46; 1.52; 1.52
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62848459-62848750; 20:62848756-62848887
Repeat_type_left : AluSq2; AluSg
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62891763-62891836
Repeat_type_right : Alu
Gap_right : .
GC_content_right : 0.385
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 43207
splitAnnotation_mode : split
TCFL5Gene_name : TCFL5;
LOEUF_bin : 0
GnomAD_pLI : 9.9128e-01
ExAC_pLI : 9.5807e-01
HI : .
TS : .
DDD_HI_percent : 78.12
ACMG : .
ExAC_cnvZ : 0.105879289111841
ExAC_delZ : 0.180618441219885
ExAC_dupZ : -0.00663331660448
ExAC_synZ : 2.74858459795657
ExAC_misZ : 3.19947668185867
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10732
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : 5'UTR-3'UTR
Tx : XM_024451809
Tx_version : 2
Tx_start : 62851489
Tx_end : 62861822
Exon_count : 6
Overlapped_tx_length : 10333
Overlapped_CDS_length : 1407
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62851489
Intersect_end : 62861822
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 43207
splitAnnotation_mode : split
DIDO1Gene_name : DIDO1;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9999e-01
HI : .
TS : .
DDD_HI_percent : 83.17
ACMG : .
ExAC_cnvZ : 0.329147917438777
ExAC_delZ : 0.377892107975703
ExAC_dupZ : 0.202879206019464
ExAC_synZ : 1.8491700818147
ExAC_misZ : 3.20419634105341
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11083
intron14-txEndLocation : intron14-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : NM_001193369
Tx_version : 2
Tx_start : 62877742
Tx_end : 62926505
Exon_count : 16
Overlapped_tx_length : 14133
Overlapped_CDS_length : 3378
Overlapped_CDS_percent : 50
Frameshift : no
Dist_nearest_SS : 111
Nearest_SS_type : 5'
Intersect_start : 62877742
Intersect_end : 62891875
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 43207
splitAnnotation_mode : split
LOC105372717Gene_name : LOC105372717;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : XR_936988
Tx_version : 4
Tx_start : 62861434
Tx_end : 62878966
Exon_count : 4
Overlapped_tx_length : 17532
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62861434
Intersect_end : 62878966
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 43207
splitAnnotation_mode : split
SNORA117Gene_name : SNORA117;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 109623463
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_145839
Tx_version : 1
Tx_start : 62882805
Tx_end : 62882903
Exon_count : 1
Overlapped_tx_length : 98
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62882805
Intersect_end : 62882903
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
2L (LINC01620/PKIG, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (4 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 71821
Gene_count : 4
fullAnnotation_mode : full
LINC01620; TTPAL; SERINC3; PKIG; [...4genes]Gene_name : LINC01620; TTPAL; SERINC3; PKIG;
LOEUF_bin : 1
GnomAD_pLI : 7.7880e-01
ExAC_pLI : 6.4076e-01
HI : .
TS : .
DDD_HI_percent : 61.95
ExAC_cnvZ : -0.468922735946001
ExAC_delZ : -2.08056467951045
ExAC_dupZ : 1.09020735707442
ExAC_synZ : 0.624423797541665
ExAC_misZ : 1.38608283403712
Closest_left : LINC01430
Closest_right : ADA
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
STK4 (morbid/RE=EA_enhancer); ADA (morbid/RE=[...]RE_gene : STK4 (morbid/RE=EA_enhancer); ADA (morbid/RE=EA_enhancer); HNF4A (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321
po_P_gain_percent : 0.11; 0.11; 0.11; 0.11; 0.11
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:44283465-44467135 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:44462244-44462288
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:44533763-44533971; 20:44534045-44534207
Repeat_type_right : L2; L2-3_Crp
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 71821
splitAnnotation_mode : split
SERINC3Gene_name : SERINC3;
LOEUF_bin : 1
GnomAD_pLI : 7.7880e-01
ExAC_pLI : 5.9025e-01
HI : .
TS : .
DDD_HI_percent : 61.95
ACMG : .
ExAC_cnvZ : -0.816035652391995
ExAC_delZ : -2.08056467951045
ExAC_dupZ : 0.227114150202327
ExAC_synZ : -0.264159414390584
ExAC_misZ : -0.406577279632248
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10955
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_198941
Tx_version : 3
Tx_start : 44496220
Tx_end : 44522070
Exon_count : 11
Overlapped_tx_length : 25850
Overlapped_CDS_length : 1422
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44496220
Intersect_end : 44522070
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 71821
splitAnnotation_mode : split
TTPALGene_name : TTPAL;
LOEUF_bin : 3
GnomAD_pLI : 1.1600e-01
ExAC_pLI : 6.4076e-01
HI : .
TS : .
DDD_HI_percent : 44.49
ACMG : .
ExAC_cnvZ : -1.05203378013258
ExAC_delZ : -2.55513616136577
ExAC_dupZ : 0.343204261997586
ExAC_synZ : 0.0946480902434807
ExAC_misZ : 1.38608283403712
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79183
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001039199
Tx_version : 3
Tx_start : 44475873
Tx_end : 44494603
Exon_count : 5
Overlapped_tx_length : 18730
Overlapped_CDS_length : 1029
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44475873
Intersect_end : 44494603
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 71821
splitAnnotation_mode : split
PKIGGene_name : PKIG;
LOEUF_bin : 7
GnomAD_pLI : 5.1408e-01
ExAC_pLI : 5.6458e-01
HI : .
TS : .
DDD_HI_percent : 46.68
ACMG : .
ExAC_cnvZ : -0.468922735946001
ExAC_delZ : -2.0907823820437
ExAC_dupZ : 1.09020735707442
ExAC_synZ : 0.624423797541665
ExAC_misZ : 0.96266852891822
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11142
txStart-intron1Location : txStart-intron1
CytoBand : q13.12
Location2 : 5'UTR
Tx : NM_001281444
Tx_version : 2
Tx_start : 44531874
Tx_end : 44619037
Exon_count : 6
Overlapped_tx_length : 2133
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2029
Nearest_SS_type : 5'
Intersect_start : 44531874
Intersect_end : 44534007
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 71821
splitAnnotation_mode : split
LINC01620Gene_name : LINC01620;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140834
txStart-intron2Location : txStart-intron2
CytoBand : q13.12
Location2 : UTR
Tx : NR_132343
Tx_version : 1
Tx_start : 44451983
Tx_end : 44465344
Exon_count : 3
Overlapped_tx_length : 3158
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 37
Nearest_SS_type : 5'
Intersect_start : 44462186
Intersect_end : 44465344
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:44283465-44467135
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
2L (SERINC3, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (4 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 69143
Gene_count : 4
fullAnnotation_mode : full
LINC01430; LINC01620; TTPAL; SERINC3; [...4genes]Gene_name : LINC01430; LINC01620; TTPAL; SERINC3;
LOEUF_bin : 1
GnomAD_pLI : 7.7880e-01
ExAC_pLI : 6.4076e-01
HI : .
TS : .
DDD_HI_percent : 61.95
ExAC_cnvZ : -0.816035652391995
ExAC_delZ : -2.08056467951045
ExAC_dupZ : 0.343204261997586
ExAC_synZ : 0.0946480902434807
ExAC_misZ : 1.38608283403712
Closest_left : MIR3646
Closest_right : PKIG
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
STK4 (morbid/RE=EA_enhancer); HNF4A (morbid/R[...]RE_gene : STK4 (morbid/RE=EA_enhancer); HNF4A (morbid/RE=EA_enhancer); ADA (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321
po_P_gain_percent : 0.11; 0.11; 0.11; 0.11; 0.11
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:44283465-44467135 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:44443359-44443718; 20:44443719-44444028
Repeat_type_left : Kanga1a; AluY
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.365
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 69143
splitAnnotation_mode : split
SERINC3Gene_name : SERINC3;
LOEUF_bin : 1
GnomAD_pLI : 7.7880e-01
ExAC_pLI : 5.9025e-01
HI : .
TS : .
DDD_HI_percent : 61.95
ACMG : .
ExAC_cnvZ : -0.816035652391995
ExAC_delZ : -2.08056467951045
ExAC_dupZ : 0.227114150202327
ExAC_synZ : -0.264159414390584
ExAC_misZ : -0.406577279632248
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 10955
exon3-txEndLocation : exon3-txEnd
CytoBand : q13.12
Location2 : CDS-3'UTR
Tx : NM_198941
Tx_version : 3
Tx_start : 44496220
Tx_end : 44522070
Exon_count : 11
Overlapped_tx_length : 16700
Overlapped_CDS_length : 1147
Overlapped_CDS_percent : 80
Frameshift : yes
Dist_nearest_SS : 74
Nearest_SS_type : 3'
Intersect_start : 44496220
Intersect_end : 44512920
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 69143
splitAnnotation_mode : split
TTPALGene_name : TTPAL;
LOEUF_bin : 3
GnomAD_pLI : 1.1600e-01
ExAC_pLI : 6.4076e-01
HI : .
TS : .
DDD_HI_percent : 44.49
ACMG : .
ExAC_cnvZ : -1.05203378013258
ExAC_delZ : -2.55513616136577
ExAC_dupZ : 0.343204261997586
ExAC_synZ : 0.0946480902434807
ExAC_misZ : 1.38608283403712
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 79183
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : 5'UTR-3'UTR
Tx : NM_001039199
Tx_version : 3
Tx_start : 44475873
Tx_end : 44494603
Exon_count : 5
Overlapped_tx_length : 18730
Overlapped_CDS_length : 1029
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44475873
Intersect_end : 44494603
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 69143
splitAnnotation_mode : split
LINC01620Gene_name : LINC01620;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140834
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_132343
Tx_version : 1
Tx_start : 44451983
Tx_end : 44465344
Exon_count : 3
Overlapped_tx_length : 13361
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44451983
Intersect_end : 44465344
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:44283465-44467135
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 69143
splitAnnotation_mode : split
LINC01430Gene_name : LINC01430;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 101927242
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.12
Location2 : UTR
Tx : NR_109893
Tx_version : 1
Tx_start : 44448776
Tx_end : 44450557
Exon_count : 3
Overlapped_tx_length : 1781
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 44448776
Intersect_end : 44450557
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:44283465-44467135
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2J (CEP250/GDF5, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown.
3A (3 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 24591
Gene_count : 3
fullAnnotation_mode : full
GDF5; MIR1289-1; CEP250; [...3genes]Gene_name : GDF5; MIR1289-1; CEP250;
LOEUF_bin : 2
GnomAD_pLI : 6.7002e-01
ExAC_pLI : 9.2319e-01
HI : 3
TS : .
DDD_HI_percent : 50.61
ExAC_cnvZ : -0.458511700692603
ExAC_delZ : -1.56972452437764
ExAC_dupZ : 1.08930681605458
ExAC_synZ : -0.11979862993338
ExAC_misZ : 2.39058853401816
Closest_left : GDF5-AS1
Closest_right : CEP250-AS1
.Location : .
CytoBand : q11.22
601146; 609689; OMIM_ID : 601146; 609689;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
KY (morbid/RE=mTL_miRNA); TAOK1 (HI=3/morbid/[...]RE_gene : KY (morbid/RE=mTL_miRNA); TAOK1 (HI=3/morbid/RE=mTL_miRNA); EPB42 (morbid/RE=mTL_miRNA); RNF125 (morbid/RE=mTL_miRNA); PACS2 (morbid/RE=mTL_miRNA); DNAL1 (morbid/RE=mTL_miRNA); SETD1B (morbid/RE=mTL_miRNA); AMH (morbid/RE=mTL_miRNA); BICD2 (morbid/RE=mTL_miRNA); LPIN1 (morbid/RE=mTL_miRNA); TIMM8A (HI=3/morbid/RE=mTL_miRNA); SMPD1 (morbid/RE=mTL_miRNA); NUP133 (morbid/RE=mTL_miRNA); MYO1C (morbid/RE=mTL_miRNA); GSS (morbid/RE=EA_enhancer); GTF2H5 (morbid/RE=mTL_miRNA); THAP1 (morbid/RE=mTL_miRNA); IL10RB (morbid/RE=mTL_miRNA); MAGT1 (HI=3/morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); SGPL1 (morbid/RE=mTL_miRNA); NUBPL (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); SCN2B (morbid/RE=mTL_miRNA); APOA1 (morbid/RE=mTL_miRNA); CLDN19 (morbid/RE=mTL_miRNA); ELP2 (morbid/RE=mTL_miRNA); SETD2 (HI=3/morbid/RE=mTL_miRNA); PIGM (morbid/RE=mTL_miRNA); POLR3A (morbid/RE=mTL_miRNA); LRAT (morbid/RE=mTL_miRNA); TNFRSF10B (morbid/RE=mTL_miRNA); SLC26A2 (morbid/RE=mTL_miRNA); SH2B3 (morbid/RE=mTL_miRNA); DNAJB4 (morbid/RE=mTL_miRNA); PIGU (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.04; 0.04; 0.04; 0.04; 0.04; 0.08; 0.17; 0.37; 0.49; 0.47; 0.64
10P_snvindel_nb : 10
P_snvindel_phen : Cone-rod_dystrophy_and_hearing_loss_2
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35467793-35467943; 20:35467944-35468240
Repeat_type_right : L2c; AluSz
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 24591
splitAnnotation_mode : split
GDF5Gene_name : GDF5;
LOEUF_bin : 2
GnomAD_pLI : 6.7002e-01
ExAC_pLI : 9.2319e-01
HI : 3
TS : 0
DDD_HI_percent : 5.52
ACMG : .
ExAC_cnvZ : -0.458511700692603
ExAC_delZ : -1.56972452437764
ExAC_dupZ : 0.53153914020515
ExAC_synZ : -0.11979862993338
ExAC_misZ : 2.39058853401816
GenCC_disease : Angel-shaped phalango-epiphyseal dysplasia; acromesomelic dysplasia 2A; acromesomelic dysplasia 2B; acromesomelic dysplasia 2C, Hunter-Thompson type; brachydactyly type A1; brachydactyly type A1C; brachydactyly type A2; brachydactyly type C; multiple synostoses syndrome; proximal symphalangism; proximal symphalangism 1A; symphalangism, proximal, 1B
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 10080184; 11846737; 11857750; 12121354; 12124730; 12357473; 12357473[PMID]; 12567410; 12900894; 15173244[PMID]_22828428[PMID]; 16014698; 16014698[PMID]; 16127465; 16222676; 16222676[PMID]; 16532400; 16532400[PMID]; 16892395; 18283415; 18283415[PMID]_16892395[PMID]; 18629880; 19038017; 20683927[PMID]; 2703235; 27577507; 29371961; 390625; 8145850; 8589725; 8589725[PMID]; 9288091; 9288098; neant
NCBI_gene_ID : 8200
txStart-intron1Location : txStart-intron1
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_001319138
Tx_version : 2
Tx_start : 35433346
Tx_end : 35454749
Exon_count : 4
Overlapped_tx_length : 11472
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1890
Nearest_SS_type : 3'
Intersect_start : 35443277
Intersect_end : 35454749
601146; OMIM_ID : 601146;
OMIM_phenotype : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR;
Acromesomelic dysplasia 2A, 200700 (3) AR;
Acromesomelic dysplasia 2B, 228900 (3) AR;
Brachydactyly, type A1, C, 615072 (3) AR,AD;
Brachydactyly, type A2, 112600 (3) AD;
Brachydactyly, type C, 113100 (3) AD;
Multiple synostoses syndrome 2, 610017 (3) AD;
Symphalangism, proximal, 1B, 615298 (3) AD;
(Osteoarthritis-5), 612400 (3);
OMIM_inheritance : AD; AR; AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 24591
splitAnnotation_mode : split
CEP250Gene_name : CEP250;
LOEUF_bin : 3
GnomAD_pLI : 9.4490e-33
ExAC_pLI : 8.2513e-17
HI : .
TS : .
DDD_HI_percent : 50.61
ACMG : .
ExAC_cnvZ : -0.810215470023374
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.08930681605458
ExAC_synZ : -0.347127485629417
ExAC_misZ : -0.329624198705911
GenCC_disease : cone-rod dystrophy and hearing loss 2; male infertility with azoospermia or oligozoospermia due to single gene mutation; retinitis pigmentosa
GenCC_moi : AR
GenCC_classification : Disputed Evidence; Limited; Strong
GenCC_pmid : 24780881; 29718797; 30459346; 30998843; 32719396
NCBI_gene_ID : 11190
txStart-intron9Location : txStart-intron9
CytoBand : q11.22
Location2 : 5'UTR-CDS
Tx : XM_047439864
Tx_version : 1
Tx_start : 35455164
Tx_end : 35501964
Exon_count : 28
Overlapped_tx_length : 12704
Overlapped_CDS_length : 851
Overlapped_CDS_percent : 22
Frameshift : yes
Dist_nearest_SS : 313
Nearest_SS_type : 5'
Intersect_start : 35455164
Intersect_end : 35467868
609689; OMIM_ID : 609689;
OMIM_phenotype : Cone-rod dystrophy and hearing loss 2, 618358 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
10P_snvindel_nb : 10
P_snvindel_phen : Cone-rod_dystrophy_and_hearing_loss_2
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 24591
splitAnnotation_mode : split
MIR1289-1Gene_name : MIR1289-1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100302125
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.22
Location2 : UTR
Tx : NR_031620
Tx_version : 1
Tx_start : 35453953
Tx_end : 35454097
Exon_count : 1
Overlapped_tx_length : 144
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 35453953
Intersect_end : 35454097
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.45
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2I-1 (LAMA5, +0.45): NA
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 6014
Gene_count : 2
fullAnnotation_mode : full
LAMA5; MIR4758; [...2genes]Gene_name : LAMA5; MIR4758;
LOEUF_bin : 1
GnomAD_pLI : 6.4742e-03
ExAC_pLI : 9.4304e-01
HI : .
TS : .
DDD_HI_percent : 63.61
ExAC_cnvZ : -1.53572744678639
ExAC_delZ : -0.411115411986426
ExAC_dupZ : -1.9799993522554
ExAC_synZ : -4.33757037330041
ExAC_misZ : -2.11068945228824
Closest_left : ADRM1
Closest_right : LOC124904946
.Location : .
CytoBand : q13.33
601033; OMIM_ID : 601033;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC22A12 (morbid/RE=mTL_miRNA); SLC46A1 (morb[...]RE_gene : SLC22A12 (morbid/RE=mTL_miRNA); SLC46A1 (morbid/RE=mTL_miRNA); SETD1B (morbid/RE=mTL_miRNA); YY1 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); APC2 (morbid/RE=mTL_miRNA); RELT (morbid/RE=mTL_miRNA); THRB (morbid/RE=mTL_miRNA); LRIT3 (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); EPAS1 (morbid/RE=mTL_miRNA); SLC17A9 (morbid/RE=EA_enhancer); SRD5A3 (morbid/RE=mTL_miRNA); FADS1 (morbid/RE=mTL_miRNA); DNAH17 (morbid/RE=mTL_miRNA); CAD (morbid/RE=mTL_miRNA); EXOSC2 (morbid/RE=mTL_miRNA); SETD1A (HI=3/morbid/RE=mTL_miRNA); EP300 (HI=3/morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); AGRN (morbid/RE=mTL_miRNA); ITPA (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); PRSS12 (morbid/RE=mTL_miRNA); SHOC2 (morbid/RE=mTL_miRNA); PEX16 (morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); GABRB2 (morbid/RE=mTL_miRNA); NSD1 (HI=3/morbid/RE=mTL_miRNA); VPS4A (morbid/RE=mTL_miRNA); TERT (morbid/RE=mTL_miRNA); KMT2D (HI=3/morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); ARHGAP31 (morbid/RE=mTL_miRNA);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.05; 0.05; 0.05; 0.08; 0.07; 0.10; 0.09; 0.10; 0.10; 0.11; 0.20; 0.21; 0.21
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62327701-62327745
Repeat_type_left : (CAGGTGC)n
Gap_left : .
GC_content_left : 0.625
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62333820-62333876
Repeat_type_right : (GGTGG)n
Gap_right : .
GC_content_right : 0.705
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 6014
splitAnnotation_mode : split
LAMA5Gene_name : LAMA5;
LOEUF_bin : 1
GnomAD_pLI : 6.4742e-03
ExAC_pLI : 9.4304e-01
HI : .
TS : .
DDD_HI_percent : 63.61
ACMG : .
ExAC_cnvZ : -1.53572744678639
ExAC_delZ : -0.411115411986426
ExAC_dupZ : -1.9799993522554
ExAC_synZ : -4.33757037330041
ExAC_misZ : -2.11068945228824
GenCC_disease : LAMA5-related multisystemic syndrome; nephrotic syndrome, IIa 26
GenCC_moi : AD; AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 201750; 280460; 28735299[PMID]; 29534211; 3515625
NCBI_gene_ID : 3911
intron23-intron36Location : intron23-intron36
CytoBand : q13.33
Location2 : CDS
Tx : NM_005560
Tx_version : 6
Tx_start : 62309064
Tx_end : 62367312
Exon_count : 80
Overlapped_tx_length : 6014
Overlapped_CDS_length : 1919
Overlapped_CDS_percent : 17
Frameshift : yes
Dist_nearest_SS : 60
Nearest_SS_type : 5'
Intersect_start : 62327805
Intersect_end : 62333819
601033; OMIM_ID : 601033;
OMIM_phenotype : ?Bent bone dysplasia syndrome 2, 620076 (3) AR;
Nephrotic syndrome, type 26, 620049 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 6014
splitAnnotation_mode : split
MIR4758Gene_name : MIR4758;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616340
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_039915
Tx_version : 2
Tx_start : 62332486
Tx_end : 62332557
Exon_count : 1
Overlapped_tx_length : 71
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62332486
Intersect_end : 62332557
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.45
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2I-1 (LAMA5, +0.45): NA
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 7852
Gene_count : 2
fullAnnotation_mode : full
LAMA5; MIR4758; [...2genes]Gene_name : LAMA5; MIR4758;
LOEUF_bin : 1
GnomAD_pLI : 6.4742e-03
ExAC_pLI : 9.4304e-01
HI : .
TS : .
DDD_HI_percent : 63.61
ExAC_cnvZ : -1.53572744678639
ExAC_delZ : -0.411115411986426
ExAC_dupZ : -1.9799993522554
ExAC_synZ : -4.33757037330041
ExAC_misZ : -2.11068945228824
Closest_left : ADRM1
Closest_right : LOC124904946
.Location : .
CytoBand : q13.33
601033; OMIM_ID : 601033;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
EXOSC2 (morbid/RE=mTL_miRNA); CAD (morbid/RE=[...]RE_gene : EXOSC2 (morbid/RE=mTL_miRNA); CAD (morbid/RE=mTL_miRNA); DNAH17 (morbid/RE=mTL_miRNA); GTPBP2 (morbid/RE=mTL_miRNA); EP300 (HI=3/morbid/RE=mTL_miRNA); SETD1A (HI=3/morbid/RE=mTL_miRNA); AGRN (morbid/RE=mTL_miRNA); ITPA (morbid/RE=mTL_miRNA); PRSS12 (morbid/RE=mTL_miRNA); EIF5A (morbid/RE=mTL_miRNA); GABRB2 (morbid/RE=mTL_miRNA); SHOC2 (morbid/RE=mTL_miRNA); PEX16 (morbid/RE=mTL_miRNA); ANG (morbid/RE=mTL_miRNA); VPS4A (morbid/RE=mTL_miRNA); TERT (morbid/RE=mTL_miRNA); NSD1 (HI=3/morbid/RE=mTL_miRNA); ARHGAP31 (morbid/RE=mTL_miRNA); OSBPL2 (morbid/RE=EA_enhancer); KMT2D (HI=3/morbid/RE=mTL_miRNA); SLC46A1 (morbid/RE=mTL_miRNA); SLC22A12 (morbid/RE=mTL_miRNA); APC2 (morbid/RE=mTL_miRNA); PGK1 (morbid/RE=mTL_miRNA); SETD1B (morbid/RE=mTL_miRNA); YY1 (morbid/RE=mTL_miRNA); RELT (morbid/RE=mTL_miRNA); THRB (morbid/RE=mTL_miRNA); SRD5A3 (morbid/RE=mTL_miRNA); COL9A3 (morbid/RE=EA_enhancer); LRIT3 (morbid/RE=mTL_miRNA); EPAS1 (morbid/RE=mTL_miRNA); SLC17A9 (morbid/RE=EA_enhancer); FADS1 (morbid/RE=mTL_miRNA);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.04; 0.07; 0.07; 0.07; 0.10; 0.10; 0.13; 0.11; 0.13; 0.13; 0.15; 0.27; 0.28; 0.28
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62325712-62325938; 20:62325939-62326245
Repeat_type_left : L1M5; AluSx1
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62333820-62333876
Repeat_type_right : (GGTGG)n
Gap_right : .
GC_content_right : 0.705
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 7852
splitAnnotation_mode : split
LAMA5Gene_name : LAMA5;
LOEUF_bin : 1
GnomAD_pLI : 6.4742e-03
ExAC_pLI : 9.4304e-01
HI : .
TS : .
DDD_HI_percent : 63.61
ACMG : .
ExAC_cnvZ : -1.53572744678639
ExAC_delZ : -0.411115411986426
ExAC_dupZ : -1.9799993522554
ExAC_synZ : -4.33757037330041
ExAC_misZ : -2.11068945228824
GenCC_disease : LAMA5-related multisystemic syndrome; nephrotic syndrome, IIa 26
GenCC_moi : AD; AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 201750; 280460; 28735299[PMID]; 29534211; 3515625
NCBI_gene_ID : 3911
intron23-intron40Location : intron23-intron40
CytoBand : q13.33
Location2 : CDS
Tx : NM_005560
Tx_version : 6
Tx_start : 62309064
Tx_end : 62367312
Exon_count : 80
Overlapped_tx_length : 7852
Overlapped_CDS_length : 2420
Overlapped_CDS_percent : 21
Frameshift : yes
Dist_nearest_SS : 81
Nearest_SS_type : 5'
Intersect_start : 62325967
Intersect_end : 62333819
601033; OMIM_ID : 601033;
OMIM_phenotype : ?Bent bone dysplasia syndrome 2, 620076 (3) AR;
Nephrotic syndrome, type 26, 620049 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 7852
splitAnnotation_mode : split
MIR4758Gene_name : MIR4758;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 100616340
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : UTR
Tx : NR_039915
Tx_version : 2
Tx_start : 62332486
Tx_end : 62332557
Exon_count : 1
Overlapped_tx_length : 71
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62332486
Intersect_end : 62332557
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2J (VAPB, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown.
2L (APCDD1L, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 23135
Gene_count : 2
fullAnnotation_mode : full
VAPB; APCDD1L; [...2genes]Gene_name : VAPB; APCDD1L;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.889461460184267
Closest_left : RAB22A
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
605704; OMIM_ID : 605704;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (mor[...]RE_gene : GNAS (HI=3/morbid/RE=EA_enhancer); STX16 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202
po_P_gain_percent : 0.04; 0.04; 0.04; 0.04; 0.04; 0.12; 0.20; 0.21; 0.21; 0.29; 0.44; 0.29; 0.37; 0.33; 0.39; 0.38
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58461665-58462098
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 23135
splitAnnotation_mode : split
VAPBGene_name : VAPB;
LOEUF_bin : 2
GnomAD_pLI : 5.8111e-01
ExAC_pLI : 7.3972e-01
HI : .
TS : .
DDD_HI_percent : 35.24
ACMG : .
ExAC_cnvZ : 0.374317960788326
ExAC_delZ : -0.0473171588852627
ExAC_dupZ : 0.346065861105305
ExAC_synZ : 0.44031338169414
ExAC_misZ : 0.889461460184267
GenCC_disease : adult-onset proximal spinal muscular atrophy, autosomal dominant; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8
GenCC_moi : AD
GenCC_classification : Definitive; Strong; Supportive
GenCC_pmid : 15372378; 15372378[PMID]_24212516[PMID]; 16729899; 16967488; 17804640; 18322265; 20008544; 20301623[PMID]_23941283[PMID]; 20377183; 20447143; 20577002; 21275991; 21685205; 22258555; 23446633; 23771029
NCBI_gene_ID : 9217
intron3-txEndLocation : intron3-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_004738
Tx_version : 5
Tx_start : 58389228
Tx_end : 58451101
Exon_count : 6
Overlapped_tx_length : 12226
Overlapped_CDS_length : 417
Overlapped_CDS_percent : 56
Frameshift : no
Dist_nearest_SS : 69
Nearest_SS_type : 3'
Intersect_start : 58438875
Intersect_end : 58451101
605704; OMIM_ID : 605704;
OMIM_phenotype : Amyotrophic lateral sclerosis 8, 608627 (3) AD;
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 23135
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron4-txEndLocation : intron4-txEnd
CytoBand : q13.32
Location2 : CDS-3'UTR
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 2910
Overlapped_CDS_length : 765
Overlapped_CDS_percent : 49
Frameshift : no
Dist_nearest_SS : 456
Nearest_SS_type : 3'
Intersect_start : 58459100
Intersect_end : 58462010
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
2J (PTGIS, +0.00): One breakpoint is within an established HI gene / morbid gene, patient’s phenotype is either inconsistent with what is expected for LOF of that gene OR unknown.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 20077
Gene_count : 2
fullAnnotation_mode : full
PTGIS; LOC101927486; [...2genes]Gene_name : PTGIS; LOC101927486;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
Closest_left : KCNB1
Closest_right : LOC105372651
.Location : .
CytoBand : q13.13
601699; OMIM_ID : 601699;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ARFGEF2 (morbid/RE=EA_enhancer); KCNB1 (morbi[...]RE_gene : ARFGEF2 (morbid/RE=EA_enhancer); KCNB1 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321
po_P_gain_percent : 0.03; 0.03; 0.03; 0.03; 0.03; 0.10
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:49574752-49574899 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49555290-49557304
Repeat_type_left : MER4-int
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49576968-49577202; 20:49577203-49577487
Repeat_type_right : AluSq2; L1M7
Gap_right : .
GC_content_right : 0.420
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 20077
splitAnnotation_mode : split
PTGISGene_name : PTGIS;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
GenCC_disease : essential hypertension, genetic
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 12372404; 31453292; 32236489; 9217767
NCBI_gene_ID : 5740
txStart-intron1Location : txStart-intron1
CytoBand : q13.13
Location2 : 5'UTR-CDS
Tx : NM_000961
Tx_version : 4
Tx_start : 49503873
Tx_end : 49568137
Exon_count : 10
Overlapped_tx_length : 10987
Overlapped_CDS_length : 74
Overlapped_CDS_percent : 4
Frameshift : yes
Dist_nearest_SS : 6961
Nearest_SS_type : 3'
Intersect_start : 49557150
Intersect_end : 49568137
601699; OMIM_ID : 601699;
OMIM_phenotype : Hypertension, essential, 145500 (3) Multifactorial;
OMIM_inheritance : Multifactorial
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 20077
splitAnnotation_mode : split
LOC101927486Gene_name : LOC101927486;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.13
Location2 : UTR
Tx : XR_244188
Tx_version : 4
Tx_start : 49568043
Tx_end : 49571934
Exon_count : 2
Overlapped_tx_length : 3891
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 49568043
Intersect_end : 49571934
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2I-3 (AHCY, +0.00): NA
2L (ASIP, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 3421
Gene_count : 2
fullAnnotation_mode : full
ASIP; AHCY; [...2genes]Gene_name : ASIP; AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : .
TS : .
DDD_HI_percent : 60.43
ExAC_cnvZ : -1.33103414756487
ExAC_delZ : -2.21666968337742
ExAC_dupZ : -0.662370965565268
ExAC_synZ : 0.146781763348225
ExAC_misZ : 2.04452899953228
Closest_left : EIF2S2
Closest_right : ITCH
.Location : .
CytoBand : q11.22
600201; 180960; OMIM_ID : 600201; 180960;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.02; 0.05; 0.07; 0.07; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34239938-34240417
Repeat_type_left : MER65C
Gap_left : .
GC_content_left : 0.390
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:34243475-34246132
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.375
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 3421
splitAnnotation_mode : split
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : 30
TS : 0
DDD_HI_percent : 18.88
ACMG : .
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160
NCBI_gene_ID : 191
intron10-intron10Location : intron10-intron10
CytoBand : q11.22
Location2 : 3'UTR
Tx : XM_047439962
Tx_version : 1
Tx_start : 34231980
Tx_end : 34303355
Exon_count : 11
Overlapped_tx_length : 3421
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5065
Nearest_SS_type : 3'
Intersect_start : 34240095
Intersect_end : 34243516
180960; OMIM_ID : 180960;
OMIM_phenotype : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 3421
splitAnnotation_mode : split
ASIPGene_name : ASIP;
LOEUF_bin : 8
GnomAD_pLI : 1.6298e-02
ExAC_pLI : 6.9627e-02
HI : .
TS : .
DDD_HI_percent : 60.43
ACMG : .
ExAC_cnvZ : -1.33103414756487
ExAC_delZ : -2.21666968337742
ExAC_dupZ : -0.662370965565268
ExAC_synZ : 0.146781763348225
ExAC_misZ : -0.246330998187878
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 434
intron2-intron2Location : intron2-intron2
CytoBand : q11.22
Location2 : 5'UTR
Tx : XM_011528821
Tx_version : 1
Tx_start : 34186492
Tx_end : 34269344
Exon_count : 5
Overlapped_tx_length : 3421
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 16848
Nearest_SS_type : 3'
Intersect_start : 34240095
Intersect_end : 34243516
600201; OMIM_ID : 600201;
OMIM_phenotype : [Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3);
[Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3);
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (MTG2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 30025
Gene_count : 2
fullAnnotation_mode : full
MTG2; HRH3; [...2genes]Gene_name : MTG2; HRH3;
LOEUF_bin : 3
GnomAD_pLI : 4.0810e-02
ExAC_pLI : 3.6688e-01
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : -0.596643002380721
ExAC_delZ : -0.0214076574624655
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 1.35426944705502
ExAC_misZ : 3.08954671886267
Closest_left : SS18L1
Closest_right : LOC105369209
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); OSBPL2 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.05; 0.05; 0.05; 0.05; 0.05; 0.15; 0.26; 0.27; 0.27; 0.38; 0.37; 0.48; 0.43; 0.51; 0.50; 0.57; 1.02; 1.05; 1.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.625
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62223038-62224270
Repeat_type_right : ERV3-16A3_I-int
Gap_right : .
GC_content_right : 0.640
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 30025
splitAnnotation_mode : split
HRH3Gene_name : HRH3;
LOEUF_bin : 3
GnomAD_pLI : 4.0810e-02
ExAC_pLI : 3.6688e-01
HI : .
TS : .
DDD_HI_percent : 56.03
ACMG : .
ExAC_cnvZ : -0.596643002380721
ExAC_delZ : -0.0214076574624655
ExAC_dupZ : -0.773468092419664
ExAC_synZ : 1.35426944705502
ExAC_misZ : 3.08954671886267
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11255
txStart-txEndLocation : txStart-txEnd
CytoBand : q13.33
Location2 : 5'UTR-3'UTR
Tx : XM_005260266
Tx_version : 4
Tx_start : 62214959
Tx_end : 62220278
Exon_count : 4
Overlapped_tx_length : 5319
Overlapped_CDS_length : 1362
Overlapped_CDS_percent : 100
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 62214959
Intersect_end : 62220278
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 30025
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
exon2-txEndLocation : exon2-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 9970
Overlapped_CDS_length : 1097
Overlapped_CDS_percent : 86
Frameshift : yes
Dist_nearest_SS : 80
Nearest_SS_type : 5'
Intersect_start : 62193598
Intersect_end : 62203568
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
2L (MTG2/SS18L1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 10046
Gene_count : 2
fullAnnotation_mode : full
SS18L1; MTG2; [...2genes]Gene_name : SS18L1; MTG2;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 81.42
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : 0.17073896031188
ExAC_misZ : 1.60623992197187
Closest_left : PSMA7
Closest_right : HRH3
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbi[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.05; 0.09; 0.09; 0.09; 0.13; 0.12; 0.16; 0.14; 0.17; 0.17; 0.19; 0.34; 0.35; 0.35
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:62182285-62183747 dbVar;
po_B_gain_someG_coord : chr20:62178323-62186804 dbVar; chr20:62184134-62184886 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62178017-62178135; 20:62178136-62178452
Repeat_type_left : AluJo; AluSz
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62188147-62188325
Repeat_type_right : L1MEf
Gap_right : .
GC_content_right : 0.340
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 10046
splitAnnotation_mode : split
SS18L1Gene_name : SS18L1;
LOEUF_bin : 1
GnomAD_pLI : 9.8229e-01
ExAC_pLI : 8.1223e-01
HI : .
TS : .
DDD_HI_percent : 58.02
ACMG : .
ExAC_cnvZ : 0.034057331126978
ExAC_delZ : 0.610959797672354
ExAC_dupZ : -0.27389313297765
ExAC_synZ : -0.587507217353276
ExAC_misZ : 1.60623992197187
GenCC_disease : amyotrophic lateral sclerosis
GenCC_moi : AD
GenCC_classification : Limited; Moderate
GenCC_pmid : .
NCBI_gene_ID : 26039
intron11-txEndLocation : intron11-txEnd
CytoBand : q13.33
Location2 : CDS-3'UTR
Tx : NM_001301778
Tx_version : 2
Tx_start : 62143768
Tx_end : 62182514
Exon_count : 12
Overlapped_tx_length : 4305
Overlapped_CDS_length : 27
Overlapped_CDS_percent : 3
Frameshift : no
Dist_nearest_SS : 972
Nearest_SS_type : 3'
Intersect_start : 62178209
Intersect_end : 62182514
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 10046
splitAnnotation_mode : split
MTG2Gene_name : MTG2;
LOEUF_bin : 5
GnomAD_pLI : 3.3086e-04
ExAC_pLI : 6.0886e-04
HI : .
TS : .
DDD_HI_percent : 81.42
ACMG : .
ExAC_cnvZ : -1.32774353389922
ExAC_delZ : -2.09512792694799
ExAC_dupZ : -0.773361084436182
ExAC_synZ : 0.17073896031188
ExAC_misZ : 0.503074989693042
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 26164
txStart-intron1Location : txStart-intron1
CytoBand : q13.33
Location2 : 5'UTR
Tx : NM_001384347
Tx_version : 1
Tx_start : 62183027
Tx_end : 62203568
Exon_count : 7
Overlapped_tx_length : 5228
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5160
Nearest_SS_type : 3'
Intersect_start : 62183027
Intersect_end : 62188255
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (DZANK1/LOC124904877, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 19804
Gene_count : 2
fullAnnotation_mode : full
DZANK1; LOC124904877; [...2genes]Gene_name : DZANK1; LOC124904877;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LINC00851
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15606079; dbVar:nssv15161614; nssv15161711
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:11736178-19350411; 20:17725131-33012932
po_P_gain_percent : 0.07; 0.08; 0.11; 0.03; 0.03; 0.03; 0.03; 0.08; 0.07; 0.10; 0.10; 0.08; 0.07; 0.08; 0.03; 0.07; 0.26; 0.13
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:18357770-18484726
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:18402584-18402673 dbVar
po_B_gain_someG_coord : chr20:18357770-18484726 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:18394761-18394919
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.470
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18414585-18414817
Repeat_type_right : L1ME4b
Gap_right : .
GC_content_right : 0.410
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 19804
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron3-intron7Location : intron3-intron7
CytoBand : p11.23
Location2 : CDS
Tx : XM_011529277
Tx_version : 3
Tx_start : 18383366
Tx_end : 18432929
Exon_count : 13
Overlapped_tx_length : 19804
Overlapped_CDS_length : 552
Overlapped_CDS_percent : 41
Frameshift : no
Dist_nearest_SS : 32
Nearest_SS_type : 3'
Intersect_start : 18394740
Intersect_end : 18414544
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:18357770-18484726
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 19804
splitAnnotation_mode : split
LOC124904877Gene_name : LOC124904877;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-txEndLocation : intron1-txEnd
CytoBand : p11.23
Location2 : UTR
Tx : XR_007067546
Tx_version : 1
Tx_start : 18389823
Tx_end : 18400109
Exon_count : 2
Overlapped_tx_length : 5369
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4722
Nearest_SS_type : 5'
Intersect_start : 18394740
Intersect_end : 18400109
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:18357770-18484726
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2I-3 (TAF4, +0.00): NA
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 4430
Gene_count : 1
fullAnnotation_mode : full
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
Closest_left : MIR1257
Closest_right : LOC105372704
.Location : .
CytoBand : q13.33
601796; OMIM_ID : 601796;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.05; 0.07; 0.06; 0.07; 0.07; 0.08; 0.15; 0.16; 0.16
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:61819451-62008753
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:61819451-62008753 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.580
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 4430
splitAnnotation_mode : split
TAF4Gene_name : TAF4;
LOEUF_bin : 0
GnomAD_pLI : 1.0000e+00
ExAC_pLI : 9.9949e-01
HI : .
TS : .
DDD_HI_percent : 53.52
ACMG : .
ExAC_cnvZ : -0.329845887401147
ExAC_delZ : 1.11371388652181
ExAC_dupZ : -0.899908250734044
ExAC_synZ : 1.34288564453676
ExAC_misZ : 3.89519478631344
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6874
intron15-intron15Location : intron15-intron15
CytoBand : q13.33
Location2 : CDS
Tx : XM_047440429
Tx_version : 1
Tx_start : 61974797
Tx_end : 62065863
Exon_count : 16
Overlapped_tx_length : 4430
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1488
Nearest_SS_type : 3'
Intersect_start : 61977823
Intersect_end : 61982253
601796; OMIM_ID : 601796;
OMIM_phenotype : Intellectual developmental disorder, AD 73, 620450 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:61819451-62008753
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
2I-3 (NFS1, +0.00): NA
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 12536
Gene_count : 1
fullAnnotation_mode : full
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
Closest_left : RBM12
Closest_right : ROMO1
.Location : .
CytoBand : q11.22
603485; OMIM_ID : 603485;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.04; 0.09; 0.19; 0.25; 0.24; 0.33
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:35688109-35689678 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35684126-35684407
Repeat_type_left : AluY
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35696687-35696824; 20:35696825-35697136
Repeat_type_right : AluSq; AluSp
Gap_right : .
GC_content_right : 0.515
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 12536
splitAnnotation_mode : split
NFS1Gene_name : NFS1;
LOEUF_bin : 2
GnomAD_pLI : 5.5351e-02
ExAC_pLI : 8.3212e-01
HI : .
TS : .
DDD_HI_percent : 16.38
ACMG : .
ExAC_cnvZ : -1.32339341252377
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 1.21816840287075
ExAC_synZ : -0.588478731156264
ExAC_misZ : 1.53876878093165
GenCC_disease : combined oxidative phosphorylation deficiency 52; severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
GenCC_moi : AR
GenCC_classification : Limited; Strong; Supportive
GenCC_pmid : 16787928; 16847322; 24498631; 24498631[PMID]; 33457206
NCBI_gene_ID : 9054
intron3-intron5Location : intron3-intron5
CytoBand : q11.22
Location2 : CDS
Tx : NM_021100
Tx_version : 5
Tx_start : 35668051
Tx_end : 35699352
Exon_count : 13
Overlapped_tx_length : 12536
Overlapped_CDS_length : 237
Overlapped_CDS_percent : 17
Frameshift : no
Dist_nearest_SS : 379
Nearest_SS_type : 3'
Intersect_start : 35684303
Intersect_end : 35696839
603485; OMIM_ID : 603485;
OMIM_phenotype : Combined oxidative phosphorylation deficiency 52, 619386 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2I-3 (GDF5, +0.00): NA
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 5203
Gene_count : 1
fullAnnotation_mode : full
GDF5Gene_name : GDF5;
LOEUF_bin : 2
GnomAD_pLI : 6.7002e-01
ExAC_pLI : 9.2319e-01
HI : 3
TS : .
DDD_HI_percent : 5.52
ExAC_cnvZ : -0.458511700692603
ExAC_delZ : -1.56972452437764
ExAC_dupZ : 0.53153914020515
ExAC_synZ : -0.11979862993338
ExAC_misZ : 2.39058853401816
Closest_left : GDF5-AS1
Closest_right : MIR1289-1
.Location : .
CytoBand : q11.22
601146; OMIM_ID : 601146;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.08; 0.10; 0.10; 0.14
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35440718-35440901; 20:35440912-35441018
Repeat_type_left : L2b; L2c
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35445688-35445999; 20:35446010-35446026; 20:35446027-35446331
Repeat_type_right : AluSp; MIRb; AluSq2
Gap_right : .
GC_content_right : 0.380
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 5203
splitAnnotation_mode : split
GDF5Gene_name : GDF5;
LOEUF_bin : 2
GnomAD_pLI : 6.7002e-01
ExAC_pLI : 9.2319e-01
HI : 3
TS : 0
DDD_HI_percent : 5.52
ACMG : .
ExAC_cnvZ : -0.458511700692603
ExAC_delZ : -1.56972452437764
ExAC_dupZ : 0.53153914020515
ExAC_synZ : -0.11979862993338
ExAC_misZ : 2.39058853401816
GenCC_disease : Angel-shaped phalango-epiphyseal dysplasia; acromesomelic dysplasia 2A; acromesomelic dysplasia 2B; acromesomelic dysplasia 2C, Hunter-Thompson type; brachydactyly type A1; brachydactyly type A1C; brachydactyly type A2; brachydactyly type C; multiple synostoses syndrome; proximal symphalangism; proximal symphalangism 1A; symphalangism, proximal, 1B
GenCC_moi : AD; AR; sD
GenCC_classification : Definitive; Moderate; Strong; Supportive
GenCC_pmid : 10080184; 11846737; 11857750; 12121354; 12124730; 12357473; 12357473[PMID]; 12567410; 12900894; 15173244[PMID]_22828428[PMID]; 16014698; 16014698[PMID]; 16127465; 16222676; 16222676[PMID]; 16532400; 16532400[PMID]; 16892395; 18283415; 18283415[PMID]_16892395[PMID]; 18629880; 19038017; 20683927[PMID]; 2703235; 27577507; 29371961; 390625; 8145850; 8589725; 8589725[PMID]; 9288091; 9288098; neant
NCBI_gene_ID : 8200
intron1-intron2Location : intron1-intron2
CytoBand : q11.22
Location2 : 5'UTR
Tx : NM_001319138
Tx_version : 2
Tx_start : 35433346
Tx_end : 35454749
Exon_count : 4
Overlapped_tx_length : 5203
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 376
Nearest_SS_type : 5'
Intersect_start : 35440855
Intersect_end : 35446058
601146; OMIM_ID : 601146;
OMIM_phenotype : ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3) AR;
Acromesomelic dysplasia 2A, 200700 (3) AR;
Acromesomelic dysplasia 2B, 228900 (3) AR;
Brachydactyly, type A1, C, 615072 (3) AR,AD;
Brachydactyly, type A2, 112600 (3) AD;
Brachydactyly, type C, 113100 (3) AD;
Multiple synostoses syndrome 2, 610017 (3) AD;
Symphalangism, proximal, 1B, 615298 (3) AD;
(Osteoarthritis-5), 612400 (3);
OMIM_inheritance : AD; AR; AR,AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.45
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2I-1 (ZNF341, +0.45): NA
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 5251
Gene_count : 1
fullAnnotation_mode : full
ZNF341Gene_name : ZNF341;
LOEUF_bin : 3
GnomAD_pLI : 2.4063e-06
ExAC_pLI : 1.2419e-01
HI : .
TS : .
DDD_HI_percent : 48.05
ExAC_cnvZ : -1.80503660369897
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.520281061391948
ExAC_synZ : -0.656830897300228
ExAC_misZ : 0.699352069531651
Closest_left : LOC124904890
Closest_right : ZNF341-AS1
.Location : .
CytoBand : q11.22
618269; OMIM_ID : 618269;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.05; 0.04; 0.08; 0.11; 0.10; 0.14
1P_snvindel_nb : 1
P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:33759475-33761539 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33759294-33759583; 20:33759587-33759757
Repeat_type_left : AluSp; MER113
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33764668-33764816; 20:33764817-33765125
Repeat_type_right : MER33; AluJr
Gap_right : .
GC_content_right : 0.465
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 5251
splitAnnotation_mode : split
ZNF341Gene_name : ZNF341;
LOEUF_bin : 3
GnomAD_pLI : 2.4063e-06
ExAC_pLI : 1.2419e-01
HI : .
TS : .
DDD_HI_percent : 48.05
ACMG : .
ExAC_cnvZ : -1.80503660369897
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.520281061391948
ExAC_synZ : -0.656830897300228
ExAC_misZ : 0.699352069531651
GenCC_disease : hyper-IgE recurrent infection syndrome 3, autosomal recessive
GenCC_moi : AR
GenCC_classification : Strong
GenCC_pmid : 29907690; 29907691
NCBI_gene_ID : 84905
intron7-intron8Location : intron7-intron8
CytoBand : q11.22
Location2 : CDS
Tx : NM_001282933
Tx_version : 2
Tx_start : 33731995
Tx_end : 33792269
Exon_count : 15
Overlapped_tx_length : 5251
Overlapped_CDS_length : 194
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 817
Nearest_SS_type : 5'
Intersect_start : 33759623
Intersect_end : 33764874
618269; OMIM_ID : 618269;
OMIM_phenotype : Hyper-IgE syndrome 3, AR, with recurrent infections, 618282 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
1P_snvindel_nb : 1
P_snvindel_phen : Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2I-3 (KIF3B, +0.00): NA
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
Closest_left : LOC124904885
Closest_right : ASXL1
.Location : .
CytoBand : q11.21
603754; OMIM_ID : 603754;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
POFUT1 (morbid/RE=EA_enhancer); HCK (morbid/R[...]RE_gene : POFUT1 (morbid/RE=EA_enhancer); HCK (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv17969243; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15119488; dbVar:nssv15120361; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:24182140-33233051; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:31254984-32575288; 20:31254984-33473080; 20:32062769-35906606
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.00; 0.01; 0.01; 0.01; 0.04; 0.02; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:32328142-32328455; 20:32328456-32328626
Repeat_type_left : AluSx1; AluSx1
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:32328891-32328917; 20:32328918-32329206
Repeat_type_right : (TTAAA)n; AluSx
Gap_right : .
GC_content_right : 0.445
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 500
splitAnnotation_mode : split
KIF3BGene_name : KIF3B;
LOEUF_bin : 2
GnomAD_pLI : 8.4213e-02
ExAC_pLI : 2.9915e-01
HI : .
TS : .
DDD_HI_percent : 22.85
ACMG : .
ExAC_cnvZ : 0.160275694917033
ExAC_delZ : -0.861533762576394
ExAC_dupZ : 0.853647510937186
ExAC_synZ : -0.691470280996355
ExAC_misZ : 3.07202873442255
GenCC_disease : ciliopathy; retinitis pigmentosa 89
GenCC_moi : AD
GenCC_classification : Limited; Moderate; Strong
GenCC_pmid : 32386558
NCBI_gene_ID : 9371
intron7-intron7Location : intron7-intron7
CytoBand : q11.21
Location2 : CDS
Tx : NM_004798
Tx_version : 4
Tx_start : 32277650
Tx_end : 32335011
Exon_count : 9
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 795
Nearest_SS_type : 5'
Intersect_start : 32328456
Intersect_end : 32328956
603754; OMIM_ID : 603754;
OMIM_phenotype : Retinitis pigmentosa 89, 618955 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (LINC02970, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 439
Gene_count : 1
fullAnnotation_mode : full
LINC02970Gene_name : LINC02970;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : MIR133A2
Closest_right : LOC124904948
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morb[...]RE_gene : OSBPL2 (morbid/RE=EA_enhancer); SLC17A9 (morbid/RE=EA_enhancer); COL9A3 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62597825-62597983
Repeat_type_left : MIR3
Gap_left : .
GC_content_left : 0.580
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:62598040-62598494
Repeat_type_right : L1ME1
Gap_right : .
GC_content_right : 0.465
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 439
splitAnnotation_mode : split
LINC02970Gene_name : LINC02970;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105372712
intron1-intron1Location : intron1-intron1
CytoBand : q13.33
Location2 : UTR
Tx : NR_184037
Tx_version : 1
Tx_start : 62594264
Tx_end : 62603441
Exon_count : 2
Overlapped_tx_length : 439
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 524
Nearest_SS_type : 3'
Intersect_start : 62597742
Intersect_end : 62598181
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (CDH4, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 11756
Gene_count : 1
fullAnnotation_mode : full
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
Closest_left : LOC105372703
Closest_right : LOC100128310
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326
po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.06; 0.10; 0.11; 0.11; 0.15; 0.15; 0.19; 0.17; 0.20; 0.20; 0.22; 0.40
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:61443762-61445041
Repeat_type_left : (TG)n
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:61456366-61456594
Repeat_type_right : MER20
Gap_right : .
GC_content_right : 0.450
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 11756
splitAnnotation_mode : split
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ACMG : .
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
GenCC_disease : multiple congenital anomalies/dysmorphic syndrome
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 1002
intron2-intron2Location : intron2-intron2
CytoBand : q13.33
Location2 : CDS
Tx : NM_001794
Tx_version : 5
Tx_start : 61252260
Tx_end : 61940617
Exon_count : 16
Overlapped_tx_length : 11756
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 189893
Nearest_SS_type : 5'
Intersect_start : 61444830
Intersect_end : 61456586
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (CDH4, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 9399
Gene_count : 1
fullAnnotation_mode : full
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
Closest_left : LOC105372703
Closest_right : LOC100128310
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.05; 0.08; 0.08; 0.09; 0.12; 0.12; 0.15; 0.13; 0.16; 0.16; 0.18; 0.32
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:61443762-61445041
Repeat_type_left : (TG)n
Gap_left : .
GC_content_left : 0.385
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:61454169-61454445
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.530
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 9399
splitAnnotation_mode : split
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ACMG : .
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
GenCC_disease : multiple congenital anomalies/dysmorphic syndrome
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 1002
intron2-intron2Location : intron2-intron2
CytoBand : q13.33
Location2 : CDS
Tx : NM_001794
Tx_version : 5
Tx_start : 61252260
Tx_end : 61940617
Exon_count : 16
Overlapped_tx_length : 9399
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 189893
Nearest_SS_type : 5'
Intersect_start : 61444830
Intersect_end : 61454229
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
2L (APCDD1L, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 7725
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.04; 0.07; 0.07; 0.07; 0.10; 0.15; 0.10; 0.12; 0.11; 0.13; 0.13
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:58495907-58503879 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58489796-58490284
Repeat_type_left : Arthur1
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58497390-58497777
Repeat_type_right : MLT1B
Gap_right : .
GC_content_right : 0.490
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 7725
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-intron2Location : intron2-intron2
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 7725
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 16123
Nearest_SS_type : 5'
Intersect_start : 58489968
Intersect_end : 58497693
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (APCDD1L, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 4924
Gene_count : 1
fullAnnotation_mode : full
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
Closest_left : VAPB
Closest_right : APCDD1L-DT
.Location : .
CytoBand : q13.32
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.04; 0.04; 0.04; 0.06; 0.09; 0.06; 0.08; 0.07; 0.08; 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:58489796-58490284
Repeat_type_left : Arthur1
Gap_left : .
GC_content_left : 0.280
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:58494753-58495024
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.600
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 4924
splitAnnotation_mode : split
APCDD1LGene_name : APCDD1L;
LOEUF_bin : 4
GnomAD_pLI : 5.8959e-02
ExAC_pLI : 1.7559e-02
HI : .
TS : .
DDD_HI_percent : 75.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : 1.1428619576303
ExAC_misZ : 0.682394111112003
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 164284
intron2-intron2Location : intron2-intron2
CytoBand : q13.32
Location2 : CDS
Tx : NM_001304787
Tx_version : 2
Tx_start : 58459100
Tx_end : 58515399
Exon_count : 5
Overlapped_tx_length : 4924
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 18924
Nearest_SS_type : 5'
Intersect_start : 58489968
Intersect_end : 58494892
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (LOC105372666, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 765
Gene_count : 1
fullAnnotation_mode : full
LOC105372666Gene_name : LOC105372666;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904931
Closest_right : LOC105372665
.Location : .
CytoBand : q13.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15145785
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:49947238-55875406
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:52569336-52569628; 20:52569629-52569710; 20:52569807-52570026
Repeat_type_left : AluJr; (TTTCTC)n; L1MC4
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:52570367-52570451
Repeat_type_right : (TAATA)n
Gap_right : .
GC_content_right : 0.250
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 765
splitAnnotation_mode : split
LOC105372666Gene_name : LOC105372666;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
exon7-exon7Location : exon7-exon7
CytoBand : q13.2
Location2 : UTR
Tx : XR_001754671
Tx_version : 2
Tx_start : 52210642
Tx_end : 52571981
Exon_count : 7
Overlapped_tx_length : 765
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3129
Nearest_SS_type : 3'
Intersect_start : 52569719
Intersect_end : 52570484
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (R3HDML-AS1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
R3HDML-AS1Gene_name : R3HDML-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : R3HDML
Closest_right : HNF4A
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:44283465-44467135
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:44283465-44467135 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:44353814-44354108
Repeat_type_left : AluSz
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:44354187-44354447
Repeat_type_right : AluSg
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 500
splitAnnotation_mode : split
R3HDML-AS1Gene_name : R3HDML-AS1;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105372629
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : UTR
Tx : NR_184036
Tx_version : 1
Tx_start : 44347551
Tx_end : 44355242
Exon_count : 4
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 502
Nearest_SS_type : 5'
Intersect_start : 44354016
Intersect_end : 44354516
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:44283465-44467135
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (TOX2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 953
Gene_count : 1
fullAnnotation_mode : full
TOX2Gene_name : TOX2;
LOEUF_bin : 3
GnomAD_pLI : 3.1987e-02
ExAC_pLI : 6.7408e-01
HI : .
TS : .
DDD_HI_percent : 37.74
ExAC_cnvZ : -0.388796873769303
ExAC_delZ : -1.81719107302044
ExAC_dupZ : 0.910063942862999
ExAC_synZ : 0.838778443740044
ExAC_misZ : 0.711413277389895
Closest_left : LINC01728
Closest_right : JPH2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:43926355-43926455
Repeat_type_left : MIRc
Gap_left : .
GC_content_left : 0.405
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43926715-43927337
Repeat_type_right : LTR87
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 953
splitAnnotation_mode : split
TOX2Gene_name : TOX2;
LOEUF_bin : 3
GnomAD_pLI : 3.1987e-02
ExAC_pLI : 6.7408e-01
HI : .
TS : .
DDD_HI_percent : 37.74
ACMG : .
ExAC_cnvZ : -0.388796873769303
ExAC_delZ : -1.81719107302044
ExAC_dupZ : 0.910063942862999
ExAC_synZ : 0.838778443740044
ExAC_misZ : 0.711413277389895
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 84969
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : CDS
Tx : XM_047440563
Tx_version : 1
Tx_start : 43914851
Tx_end : 44066857
Exon_count : 8
Overlapped_tx_length : 953
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11316
Nearest_SS_type : 5'
Intersect_start : 43926306
Intersect_end : 43927259
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (PHF20, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 10880
Gene_count : 1
fullAnnotation_mode : full
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
Closest_left : LOC124904980
Closest_right : SCAND1
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.02; 0.02; 0.02; 0.02; 0.02; 0.04; 0.07; 0.17; 0.22; 0.21; 0.28
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:35802067-35802255
Repeat_type_left : MIRc
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:35812454-35812966; 20:35812967-35813272
Repeat_type_right : L1MC4; AluY
Gap_right : .
GC_content_right : 0.520
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 10880
splitAnnotation_mode : split
PHF20Gene_name : PHF20;
LOEUF_bin : 0
GnomAD_pLI : 9.9875e-01
ExAC_pLI : 9.7574e-01
HI : .
TS : .
DDD_HI_percent : 18.87
ACMG : .
ExAC_cnvZ : -1.43875861695951
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.481646081289262
ExAC_synZ : 1.00355903616856
ExAC_misZ : 1.84036740504907
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51230
intron2-intron2Location : intron2-intron2
CytoBand : q11.23
Location2 : CDS
Tx : NM_016436
Tx_version : 5
Tx_start : 35772014
Tx_end : 35950370
Exon_count : 18
Overlapped_tx_length : 10880
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 541
Nearest_SS_type : 5'
Intersect_start : 35802146
Intersect_end : 35813026
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (CBFA2T2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 8236
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.03; 0.05; 0.08; 0.06; 0.13; 0.17; 0.16; 0.21
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33589759-33589957; 20:33589971-33590264
Repeat_type_right : Charlie5; AluJr
Gap_right : .
GC_content_right : 0.335
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 8236
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 8236
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 17022
Nearest_SS_type : 3'
Intersect_start : 33581697
Intersect_end : 33589933
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (CBFA2T2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 489
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.01; 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33513052-33513293; 20:33513346-33513660
Repeat_type_left : L1ME3A; AluSg
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33513346-33513660; 20:33513663-33513839
Repeat_type_right : AluSg; AluSx1
Gap_right : .
GC_content_right : 0.540
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 489
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 489
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 22948
Nearest_SS_type : 5'
Intersect_start : 33513249
Intersect_end : 33513738
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (CBFA2T2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 286
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv17956859; dbVar:nssv17969245; dbVar:nssv15126160; dbVar:nssv18329174; dbVar:nssv18330272; dbVar:nssv15773495; dbVar:nssv15138686
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:9811434-39316956; 20:18685236-35315413; 20:25461962-35173747; 20:25774465-40429426; 20:30417447-36975323; 20:31245733-36227615; 20:31245806-36459549; 20:32062769-35906606
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33501631-33501939
Repeat_type_left : AluSc5
Gap_left : .
GC_content_left : 0.535
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33501957-33502079; 20:33502134-33502398
Repeat_type_right : AluJo; L1MC4
Gap_right : .
GC_content_right : 0.445
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 286
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 286
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 11462
Nearest_SS_type : 5'
Intersect_start : 33501763
Intersect_end : 33502049
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (PYGB, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
PYGBGene_name : PYGB;
LOEUF_bin : 4
GnomAD_pLI : 1.4144e-14
ExAC_pLI : 4.7649e-07
HI : .
TS : .
DDD_HI_percent : 37.49
ExAC_cnvZ : -0.568550656944686
ExAC_delZ : 0.563911426838114
ExAC_dupZ : -1.01545628970025
ExAC_synZ : -0.104862396376509
ExAC_misZ : 0.781668949921116
Closest_left : LOC105372579
Closest_right : ABHD12
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:25015257-26202005; chr20:25086404-25496170; chr20:25104610-25364011; chr20:25121452-25367702; chr20:25284710-25318462
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:25086404-25496170 dbVar; chr20:25121452-25367702 dbVar;
po_B_gain_someG_coord : chr20:25015257-26202005 dbVar; chr20:25104610-25364011 dbVar; chr20:25284710-25318462 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.620
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:25287369-25287681; 20:25287703-25288001
Repeat_type_right : AluJr; AluJo
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 500
splitAnnotation_mode : split
PYGBGene_name : PYGB;
LOEUF_bin : 4
GnomAD_pLI : 1.4144e-14
ExAC_pLI : 4.7649e-07
HI : .
TS : .
DDD_HI_percent : 37.49
ACMG : .
ExAC_cnvZ : -0.568550656944686
ExAC_delZ : 0.563911426838114
ExAC_dupZ : -1.01545628970025
ExAC_synZ : -0.104862396376509
ExAC_misZ : 0.781668949921116
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 5834
intron14-intron14Location : intron14-intron14
CytoBand : p11.21
Location2 : CDS
Tx : XM_047440342
Tx_version : 1
Tx_start : 25248084
Tx_end : 25290622
Exon_count : 16
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 310
Nearest_SS_type : 3'
Intersect_start : 25287217
Intersect_end : 25287717
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:25015257-26202005; chr20:25086404-25496170; chr20:25104610-25364011; chr20:25121452-25367702; chr20:25284710-25318462
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (XRN2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 620
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21324325-21324558
Repeat_type_left : L1ME3E
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21324814-21325149
Repeat_type_right : L1MB7
Gap_right : .
GC_content_right : 0.320
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 620
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron1-intron1Location : intron1-intron1
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 620
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1182
Nearest_SS_type : 3'
Intersect_start : 21324476
Intersect_end : 21325096
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2L (RALGAPA2, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 75159
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274
po_P_gain_percent : 0.25; 0.29; 0.12; 0.12; 0.12; 0.12; 0.32; 0.25; 0.29; 0.25; 0.29; 0.12; 0.25; 0.49; 0.45; 0.62
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:20516882-20518061
Repeat_type_left : L1PBb
Gap_left : .
GC_content_left : 0.540
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.425
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 75159
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron2-intron17Location : intron2-intron17
CytoBand : p11.23
Location2 : CDS
Tx : XM_047440324
Tx_version : 1
Tx_start : 20389529
Tx_end : 20605152
Exon_count : 25
Overlapped_tx_length : 75159
Overlapped_CDS_length : 1881
Overlapped_CDS_percent : 48
Frameshift : no
Dist_nearest_SS : 893
Nearest_SS_type : 3'
Intersect_start : 20517048
Intersect_end : 20592207
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (DZANK1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
Closest_left : LOC124904877
Closest_right : POLR3F
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15606079; dbVar:nssv15161614; nssv15161711
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:11736178-19350411; 20:17725131-33012932
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:18357770-18484726
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:18357770-18484726 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:18414585-18414817
Repeat_type_right : L1ME4b
Gap_right : .
GC_content_right : 0.410
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 500
splitAnnotation_mode : split
DZANK1Gene_name : DZANK1;
LOEUF_bin : 6
GnomAD_pLI : 5.3034e-21
ExAC_pLI : 4.5951e-15
HI : .
TS : .
DDD_HI_percent : 66.69
ACMG : .
ExAC_cnvZ : -0.356712195143778
ExAC_delZ : -0.0864330321341482
ExAC_dupZ : -0.47763891227223
ExAC_synZ : -0.901559601243748
ExAC_misZ : -1.60183554334231
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55184
intron3-intron4Location : intron3-intron4
CytoBand : p11.23
Location2 : CDS
Tx : XM_011529277
Tx_version : 3
Tx_start : 18383366
Tx_end : 18432929
Exon_count : 13
Overlapped_tx_length : 500
Overlapped_CDS_length : 165
Overlapped_CDS_percent : 12
Frameshift : no
Dist_nearest_SS : 32
Nearest_SS_type : 3'
Intersect_start : 18414044
Intersect_end : 18414544
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:18357770-18484726
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (ESF1, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 676
Gene_count : 1
fullAnnotation_mode : full
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
Closest_left : LOC124904872
Closest_right : NDUFAF5
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15156258; dbVar:nssv15161048; dbVar:nssv15606079
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:7623474-14758379; 20:9811434-39316956; 20:11736178-19350411
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:13413087-13829480; chr20:13573123-13770225
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:13573123-13770225 dbVar
po_B_gain_someG_coord : chr20:13413087-13829480 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13767245-13767545
Repeat_type_left : AluSq2
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13768341-13768605
Repeat_type_right : AluSx
Gap_right : .
GC_content_right : 0.500
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 676
splitAnnotation_mode : split
ESF1Gene_name : ESF1;
LOEUF_bin : 2
GnomAD_pLI : 1.7818e-02
ExAC_pLI : 8.4445e-02
HI : .
TS : .
DDD_HI_percent : 29.14
ACMG : .
ExAC_cnvZ : -0.612357943123988
ExAC_delZ : 0.118511275926083
ExAC_dupZ : -0.96756795437444
ExAC_synZ : -0.340242886246339
ExAC_misZ : -1.06031877197673
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 51575
intron7-intron7Location : intron7-intron7
CytoBand : p12.1
Location2 : CDS
Tx : NM_001276380
Tx_version : 2
Tx_start : 13714324
Tx_end : 13784919
Exon_count : 14
Overlapped_tx_length : 676
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 648
Nearest_SS_type : 3'
Intersect_start : 13767572
Intersect_end : 13768248
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:13413087-13829480; chr20:13573123-13770225
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (DNAAF9, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 67192
Gene_count : 1
fullAnnotation_mode : full
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC4A11
Closest_right : LOC124904983
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/R[...]RE_gene : ITPA (morbid/RE=EA_enhancer); IDH3B (morbid/RE=EA_enhancer); NOP56 (morbid/RE=EA_enhancer); DDRGK1 (morbid/RE=EA_enhancer); AVP (morbid/RE=EA_enhancer); VPS16 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948; dbVar:nssv15148984; dbVar:nssv15134349
po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291; 20:1269304-8626911; 20:3059232-4187716
po_P_gain_percent : 1.07; 0.52; 0.22; 0.64; 0.26; 0.36; 0.10; 0.10; 0.10; 0.10; 1.11; 0.29; 0.22; 0.35; 0.35; 0.26; 0.22; 0.26; 0.10; 1.23; 0.91; 5.95
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:3227422-3413668
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:3227422-3413668 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3296154-3296264
Repeat_type_left : AluJb
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3362947-3363248; 20:3363249-3363316; 20:3363318-3363491
Repeat_type_right : AluSx; HAL1; AluSx
Gap_right : .
GC_content_right : 0.415
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 67192
splitAnnotation_mode : split
DNAAF9Gene_name : DNAAF9;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 25943
intron6-intron23Location : intron6-intron23
CytoBand : p13
Location2 : CDS
Tx : NM_001009984
Tx_version : 3
Tx_start : 3249305
Tx_end : 3407669
Exon_count : 37
Overlapped_tx_length : 67192
Overlapped_CDS_length : 1406
Overlapped_CDS_percent : 39
Frameshift : yes
Dist_nearest_SS : 730
Nearest_SS_type : 5'
Intersect_start : 3296130
Intersect_end : 3363322
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:3227422-3413668
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : 0.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (SIRPD, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (1 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SIRPDGene_name : SIRPD;
LOEUF_bin : 9
GnomAD_pLI : 3.9148e-08
ExAC_pLI : 7.7820e-05
HI : .
TS : .
DDD_HI_percent : 94.86
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.860981734552998
ExAC_misZ : -1.090752063684
Closest_left : LOC105372498
Closest_right : LOC107985409
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948; dbVar:nssv15148984
po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291; 20:1269304-8626911
po_P_gain_percent : 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:1509522-1569123
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:1509522-1569123 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.420
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:1551495-1551630
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.435
full=3ACMG_class : full=3
DUPSV_type : DUP
SV_length : 500
splitAnnotation_mode : split
SIRPDGene_name : SIRPD;
LOEUF_bin : 9
GnomAD_pLI : 3.9148e-08
ExAC_pLI : 7.7820e-05
HI : .
TS : .
DDD_HI_percent : 94.86
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : -0.860981734552998
ExAC_misZ : -1.090752063684
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128646
exon2-intron2Location : exon2-intron2
CytoBand : p13
Location2 : CDS
Tx : NM_001410802
Tx_version : 1
Tx_start : 1534250
Tx_end : 1557705
Exon_count : 4
Overlapped_tx_length : 500
Overlapped_CDS_length : 9
Overlapped_CDS_percent : 1
Frameshift : no
Dist_nearest_SS : 9
Nearest_SS_type : 5'
Intersect_start : 1551199
Intersect_end : 1551699
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:1509522-1569123
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904947
Closest_right : LOC105376995
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222; dbVar:nssv15136949; dbVar:nssv15163235; dbVar:nssv15163236
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321; 20:61326550-64277326; 20:61478179-64329941; 20:61488590-64329941
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:62506800-62506900
Repeat_type_left : MIR1_Amn
Gap_left : .
GC_content_left : 0.655
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.665
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 9333
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.05; 0.08; 0.08; 0.08; 0.12; 0.18; 0.12; 0.15; 0.13; 0.16; 0.15; 0.18
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:60908225-60912733 dbVar
po_B_gain_someG_coord : 20:60907657-60907657 1000g
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60913659-60915233
Repeat_type_right : L1M4
Gap_right : .
GC_content_right : 0.240
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 4535
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.09; 0.06; 0.07; 0.06; 0.08; 0.08; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.410
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337
Repeat_type_right : AluJb; L1ME4c
Gap_right : .
GC_content_right : 0.415
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 9470
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.05; 0.08; 0.09; 0.09; 0.12; 0.18; 0.12; 0.15; 0.13; 0.16; 0.16; 0.18
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60889604-60890048
Repeat_type_left : L2b
Gap_left : .
GC_content_left : 0.550
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337
Repeat_type_right : AluJb; L1ME4c
Gap_right : .
GC_content_right : 0.415
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 16848
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.03; 0.03; 0.03; 0.03; 0.03; 0.09; 0.15; 0.15; 0.15; 0.21; 0.32; 0.21; 0.27; 0.24; 0.28; 0.28; 0.32
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60898715-60899009; 20:60899010-60899337
Repeat_type_right : AluJb; L1ME4c
Gap_right : .
GC_content_right : 0.415
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 4455
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.08; 0.06; 0.07; 0.06; 0.08; 0.07; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60886611-60886662
Repeat_type_right : (ATACAG)n
Gap_right : .
GC_content_right : 0.315
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 4455
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.08; 0.06; 0.07; 0.06; 0.08; 0.07; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60886611-60886662
Repeat_type_right : (ATACAG)n
Gap_right : .
GC_content_right : 0.315
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 4455
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.04; 0.04; 0.04; 0.06; 0.08; 0.06; 0.07; 0.06; 0.08; 0.07; 0.09
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:60886611-60886662
Repeat_type_right : (ATACAG)n
Gap_right : .
GC_content_right : 0.315
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 3499
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.07; 0.04; 0.06; 0.05; 0.06; 0.06; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.535
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 3245
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.05; 0.05; 0.05; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.515
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 3245
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.05; 0.05; 0.05; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.515
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 3010
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372700
Closest_right : LINC01718
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542; dbVar:nssv16207428; dbVar:nssv17969249; dbVar:nssv15134222
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089; 20:58213046-64131052; 20:58260684-64284202; 20:59041967-64277321
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.04; 0.05; 0.05; 0.06
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:60881975-60882100; 20:60882252-60882469
Repeat_type_left : MER5B; LTR84a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.380
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 3349
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372692
Closest_right : LOC105372693
.Location : .
CytoBand : q13.31
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784; dbVar:nssv15150706; dbVar:nssv17649957; dbVar:nssv15138905; dbVar:nssv15605863; dbVar:nssv15134185; dbVar:nssv15135765; dbVar:nssv16207427; dbVar:nssv15138542
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321; 20:52926078-64284202; 20:53183110-64285273; 20:53236166-64284202; 20:55568690-63563528; 20:55630598-60941207; 20:56198033-64277321; 20:57168467-63401636; 20:57229416-64273089
po_P_gain_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.02; 0.03; 0.03; 0.03; 0.04; 0.06; 0.04; 0.05; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:57284782-57956683; chr20:57550924-58372190
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:57550924-58372190 dbVar
po_B_gain_someG_coord : chr20:57284782-57956683 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:57767173-57768587
Repeat_type_left : L1MEf
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:57770978-57771399
Repeat_type_right : L2b
Gap_right : .
GC_content_right : 0.580
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 823
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : PLTP
Closest_right : LOC107985388
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161322; dbVar:nssv15145784
po_P_gain_coord : 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:99558-64277321; 20:44787705-64277321
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:45918361-45941361
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:45918361-45941361 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:45927123-45927423
Repeat_type_left : AluSz
Gap_left : .
GC_content_left : 0.605
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:45927772-45928064
Repeat_type_right : AluJr
Gap_right : .
GC_content_right : 0.480
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 622
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904968
Closest_right : LINC01597
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15143157; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243; dbVar:nssv17969245; dbVar:nssv15126160
po_P_gain_coord : 20:80107-30227427; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-30285316; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051; 20:25461962-35173747; 20:25774465-40429426
po_P_gain_percent : 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:29978531-30000000
Repeat_type_left : ALR/Alpha
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:29978531-30000000
Repeat_type_right : ALR/Alpha
Gap_right : .
GC_content_right : 0.390
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 2035
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : NDUFAF5
Closest_right : SEL1L2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15156258; dbVar:nssv15161048; dbVar:nssv15606079
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:7623474-14758379; 20:9811434-39316956; 20:11736178-19350411
po_P_gain_percent : 0.01; 0.01; 0.01; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.00; 0.03; 0.01; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:13845600-13845897
Repeat_type_left : AluSc
Gap_left : .
GC_content_left : 0.375
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:13847353-13847568
Repeat_type_right : MIRb
Gap_right : .
GC_content_right : 0.390
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 450
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : EBF4
Closest_right : CPXM1
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948; dbVar:nssv15148984
po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291; 20:1269304-8626911
po_P_gain_percent : 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : .
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:2777598-2777787; 20:2777822-2778123
Repeat_type_left : L1MD2; AluSx
Gap_left : .
GC_content_left : 0.395
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:2778134-2778179; 20:2778180-2778313; 20:2778314-2778953
Repeat_type_right : L1MB4; FLAM_A; L1MB4
Gap_right : .
GC_content_right : 0.420
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2G (cf po_B_gain_someG_source, +0.00): Overlaps a benign copy-number gain but includes additional genomic material.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 8687
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : NRSN2
Closest_right : TRIB3
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15132640; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948
po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-1028206; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291
po_P_gain_percent : 0.14; 0.07; 0.03; 0.08; 0.03; 0.05; 0.01; 0.01; 0.01; 0.01; 0.14; 0.04; 0.03; 0.93; 0.05; 0.05; 0.03; 0.03; 0.03; 0.01; 0.16
.P_snvindel_nb : .
P_snvindel_phen : .
.B_gain_source : .
B_gain_coord : .
B_gain_AFmax : .
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : .
po_B_gain_someG_coord : chr20:351809-370610 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:368742-369236
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:377627-377672; 20:377673-377978
Repeat_type_right : MIRb; AluSq
Gap_right : .
GC_content_right : 0.480
3ACMG_class : 3
AnnotSV_ranking_score : -0.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
3A (0 gene, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 420
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DEFB129
Closest_right : DEFB132
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15145938; dbVar:nssv15147465; dbVar:nssv15161063; dbVar:nssv15152226; dbVar:nssv15161100; nssv16207408; dbVar:nssv15146775; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15148916; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15132640; dbVar:nssv15145781; dbVar:nssv15146333; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15146948
po_P_gain_coord : 20:80094-6386012; 20:80107-13029401; 20:80107-30227427; 20:80928-10505458; 20:80928-26324843; 20:80929-18688031; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:84403-6159078; 20:87154-23635465; 20:87197-30403687; 20:89940-1028206; 20:89940-19071495; 20:89940-19146279; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:140881-5584291
po_P_gain_percent : 0.01; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01; 0.00; 0.00; 0.04; 0.00; 0.00; 0.00; 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:95107-296217; chr20:137830-261754; chr20:137857-261536; chr20:254359-270859
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:137830-261754 dbVar; chr20:254359-270859 dbVar
po_B_gain_someG_coord : chr20:95107-296217 dbVar; chr20:137857-261536 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:257055-257090; 20:257171-257491
Repeat_type_left : (ACAT)n; L1ME4a
Gap_left : .
GC_content_left : 0.295
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.485
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2D-1 (PANK2,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 19349
Gene_count : 2
fullAnnotation_mode : full
PANK2; RNF24; [...2genes]Gene_name : PANK2; RNF24;
LOEUF_bin : 4
GnomAD_pLI : 3.0685e-02
ExAC_pLI : 8.9836e-01
HI : .
TS : .
DDD_HI_percent : 28.84
ExAC_cnvZ : -0.0203578433468488
ExAC_delZ : 0.570475716050219
ExAC_dupZ : 0.196010887583655
ExAC_synZ : 0.952926816679747
ExAC_misZ : 2.24228352593237
Closest_left : MIR103B2
Closest_right : SMOX
.Location : .
CytoBand : p13
606157; OMIM_ID : 606157;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : HARP syndrome, 607236 (3) AR; Neurodegeneration with brain iron accumulation 1, 234200 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; morbid:PANK2
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:3889816-3929887
po_P_loss_percent : 0.34; 0.76; 0.14; 0.22; 10.77
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:3849918-3987827
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3925777-3925966 dbVar; chr20:3933948-3934054 dbVar
po_B_loss_someG_coord : chr20:3849918-3987827 dbVar; chr20:3933000-3933281 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3925250-3925532; 20:3925543-3925624
Repeat_type_left : AluSx; L2
Gap_left : .
GC_content_left : 0.565
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.345
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 19349
splitAnnotation_mode : split
PANK2Gene_name : PANK2;
LOEUF_bin : 5
GnomAD_pLI : 7.4034e-07
ExAC_pLI : 1.0792e-02
HI : .
TS : .
DDD_HI_percent : 28.84
ACMG : .
ExAC_cnvZ : -0.0203578433468488
ExAC_delZ : -0.423791335769181
ExAC_dupZ : 0.196010887583655
ExAC_synZ : 0.952926816679747
ExAC_misZ : 2.24228352593237
GenCC_disease : hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; pantothenate kinase-associated neurodegeneration
GenCC_moi : AR
GenCC_classification : Definitive; Strong
GenCC_pmid : 11479594; 12058097; 12510040; 20301663
NCBI_gene_ID : 80025
exon7-txEndLocation : exon7-txEnd
CytoBand : p13
Location2 : 3'UTR
Tx : NM_024960
Tx_version : 6
Tx_start : 3888780
Tx_end : 3929887
Exon_count : 7
Overlapped_tx_length : 4315
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2329
Nearest_SS_type : 3'
Intersect_start : 3925572
Intersect_end : 3929887
606157; OMIM_ID : 606157;
OMIM_phenotype : HARP syndrome, 607236 (3) AR;
Neurodegeneration with brain iron accumulation 1, 234200 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:3849918-3987827
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 19349
splitAnnotation_mode : split
RNF24Gene_name : RNF24;
LOEUF_bin : 4
GnomAD_pLI : 3.0685e-02
ExAC_pLI : 8.9836e-01
HI : .
TS : .
DDD_HI_percent : 19.35
ACMG : .
ExAC_cnvZ : -0.0344790022611543
ExAC_delZ : 0.570475716050219
ExAC_dupZ : -0.380921029031456
ExAC_synZ : 0.476041339344003
ExAC_misZ : 0.657061930822663
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11237
intron4-txEndLocation : intron4-txEnd
CytoBand : p13
Location2 : CDS-3'UTR
Tx : XM_047439865
Tx_version : 1
Tx_start : 3927310
Tx_end : 3978082
Exon_count : 6
Overlapped_tx_length : 17611
Overlapped_CDS_length : 219
Overlapped_CDS_percent : 42
Frameshift : no
Dist_nearest_SS : 255
Nearest_SS_type : 5'
Intersect_start : 3927310
Intersect_end : 3944921
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:3849918-3987827
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
2D-1 (PANK2,+0.00): Partial overlap with the 3' end of an established HI gene / morbid gene (5' end of the gene not involved) and only the 3' untranslated region is involved.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3560
Gene_count : 2
fullAnnotation_mode : full
PANK2; RNF24; [...2genes]Gene_name : PANK2; RNF24;
LOEUF_bin : 4
GnomAD_pLI : 3.0685e-02
ExAC_pLI : 8.9836e-01
HI : .
TS : .
DDD_HI_percent : 28.84
ExAC_cnvZ : -0.0203578433468488
ExAC_delZ : 0.570475716050219
ExAC_dupZ : 0.196010887583655
ExAC_synZ : 0.952926816679747
ExAC_misZ : 2.24228352593237
Closest_left : MIR103B2
Closest_right : SMOX
.Location : .
CytoBand : p13
606157; OMIM_ID : 606157;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : HARP syndrome, 607236 (3) AR; Neurodegeneration with brain iron accumulation 1, 234200 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15150425; dbVar:nssv18792567; dbVar:nssv15156259; dbVar:nssv17976887; morbid:PANK2
po_P_loss_coord : 20:2482456-8205033; 20:3024478-5567225; 20:3112094-17110808; 20:3197894-11867735; 20:3889816-3929887
po_P_loss_percent : 0.06; 0.14; 0.03; 0.04; 8.88
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:3849918-3987827
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:3925777-3925966 dbVar
po_B_loss_someG_coord : chr20:3849918-3987827 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:3925250-3925532; 20:3925543-3925624
Repeat_type_left : AluSx; L2
Gap_left : .
GC_content_left : 0.565
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:3928845-3929154; 20:3929193-3929407
Repeat_type_right : AluSx; AluJo
Gap_right : .
GC_content_right : 0.550
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 3560
splitAnnotation_mode : split
PANK2Gene_name : PANK2;
LOEUF_bin : 5
GnomAD_pLI : 7.4034e-07
ExAC_pLI : 1.0792e-02
HI : .
TS : .
DDD_HI_percent : 28.84
ACMG : .
ExAC_cnvZ : -0.0203578433468488
ExAC_delZ : -0.423791335769181
ExAC_dupZ : 0.196010887583655
ExAC_synZ : 0.952926816679747
ExAC_misZ : 2.24228352593237
GenCC_disease : hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; pantothenate kinase-associated neurodegeneration
GenCC_moi : AR
GenCC_classification : Definitive; Strong
GenCC_pmid : 11479594; 12058097; 12510040; 20301663
NCBI_gene_ID : 80025
exon7-exon7Location : exon7-exon7
CytoBand : p13
Location2 : 3'UTR
Tx : NM_024960
Tx_version : 6
Tx_start : 3888780
Tx_end : 3929887
Exon_count : 7
Overlapped_tx_length : 3560
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2329
Nearest_SS_type : 3'
Intersect_start : 3925572
Intersect_end : 3929132
606157; OMIM_ID : 606157;
OMIM_phenotype : HARP syndrome, 607236 (3) AR;
Neurodegeneration with brain iron accumulation 1, 234200 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:3849918-3987827
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 3560
splitAnnotation_mode : split
RNF24Gene_name : RNF24;
LOEUF_bin : 4
GnomAD_pLI : 3.0685e-02
ExAC_pLI : 8.9836e-01
HI : .
TS : .
DDD_HI_percent : 19.35
ACMG : .
ExAC_cnvZ : -0.0344790022611543
ExAC_delZ : 0.570475716050219
ExAC_dupZ : -0.380921029031456
ExAC_synZ : 0.476041339344003
ExAC_misZ : 0.657061930822663
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 11237
exon6-txEndLocation : exon6-txEnd
CytoBand : p13
Location2 : 3'UTR
Tx : XM_047439865
Tx_version : 1
Tx_start : 3927310
Tx_end : 3978082
Exon_count : 6
Overlapped_tx_length : 1822
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5069
Nearest_SS_type : 3'
Intersect_start : 3927310
Intersect_end : 3929132
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:3849918-3987827
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
3A (2 genes, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 75510
Gene_count : 2
fullAnnotation_mode : full
FAM242A; FRG1BP; [...2genes]Gene_name : FAM242A; FRG1BP;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372586
Closest_right : MLLT10P1
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:54645B_loss_source : DDD:54645
B_loss_coord : 20:30185677-30402487
B_loss_AFmax : 0.0260
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 20:30185677-30402487 DDD:54645; chr20:30344579-30344679 dbVar; 20:30364669-30416335 DDD:54654;
po_B_loss_someG_coord : 20:30185677-30317535 esv2763660; chr20:30343365-30343750 dbVar; chr20:30360675-30363394 HPRC:pbsv.DEL.2278; 20:30377432-30403659 CMRI:5_pbsv.DEL.533_duplicate7
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:30286389-30326112; 20:30286389-30335907; 20:30286389-30336431; 20:30286389-30346082; 20:30301374-30318811
Repeat_coord_left : 20:30310020-30310065
Repeat_type_left : (TGTTTC)n
Gap_left : .
GC_content_left : 0.310
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:30346079-30399907; 20:30346079-30424678; 20:30346079-30425126; 20:30346084-30392621; 20:30346084-30401216; 20:30346084-30425128; 20:30346085-30417150; 20:30371988-30416930; 20:30380348-30421728
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.435
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 75510
splitAnnotation_mode : split
FAM242AGene_name : FAM242A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105372587
txStart-txEndLocation : txStart-txEnd
CytoBand : q11.1
Location2 : UTR
Tx : NR_187586
Tx_version : 1
Tx_start : 30323310
Tx_end : 30361975
Exon_count : 5
Overlapped_tx_length : 38665
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 30323310
Intersect_end : 30361975
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:54645B_loss_source : DDD:54645
B_loss_coord : 20:30185677-30402487
B_loss_AFmax : 0.0260
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 75510
splitAnnotation_mode : split
FRG1BPGene_name : FRG1BP;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 284802
txStart-intron2Location : txStart-intron2
CytoBand : q11.1
Location2 : UTR
Tx : NR_003579
Tx_version : 2
Tx_start : 30377163
Tx_end : 30399335
Exon_count : 8
Overlapped_tx_length : 8405
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2884
Nearest_SS_type : 3'
Intersect_start : 30377163
Intersect_end : 30385568
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:54645; DDD:54654B_loss_source : DDD:54645; DDD:54654
B_loss_coord : 20:30185677-30402487; 20:30364669-30416335
B_loss_AFmax : 0.0497
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 883
Gene_count : 1
fullAnnotation_mode : full
PTGISGene_name : PTGIS;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
Closest_left : KCNB1
Closest_right : LOC101927486
.Location : .
CytoBand : q13.13
601699; OMIM_ID : 601699;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
KCNB1 (morbid/RE=EA_enhancer); ZNFX1 (morbid/[...]RE_gene : KCNB1 (morbid/RE=EA_enhancer); ZNFX1 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Hypertension, essential, 145500 (3) Multifactorial
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226; morbid:PTGIS
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110; 20:49524851-49568137
po_P_loss_percent : 0.02; 0.02; 0.04; 0.03; 2.04
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49534334-49562349; chr20:49534478-49562489
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:49534478-49562489 dbVar;
po_B_loss_someG_coord : chr20:49534334-49562349 dbVar; chr20:49551394-49551653 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49550922-49551224; 20:49551226-49551702
Repeat_type_left : AluSz; MER4B
Gap_left : .
GC_content_left : 0.475
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49551848-49552497
Repeat_type_right : MER4-int
Gap_right : .
GC_content_right : 0.430
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 883
splitAnnotation_mode : split
PTGISGene_name : PTGIS;
LOEUF_bin : 6
GnomAD_pLI : 1.1970e-09
ExAC_pLI : 2.4233e-05
HI : .
TS : .
DDD_HI_percent : 65.68
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.636834400784232
ExAC_synZ : 0.275099413688182
ExAC_misZ : -0.751268886668729
GenCC_disease : essential hypertension, genetic
GenCC_moi : .
GenCC_classification : Limited
GenCC_pmid : 12372404; 31453292; 32236489; 9217767
NCBI_gene_ID : 5740
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : CDS
Tx : NM_000961
Tx_version : 4
Tx_start : 49503873
Tx_end : 49568137
Exon_count : 10
Overlapped_tx_length : 883
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 951
Nearest_SS_type : 3'
Intersect_start : 49551140
Intersect_end : 49552023
601699; OMIM_ID : 601699;
OMIM_phenotype : Hypertension, essential, 145500 (3) Multifactorial;
OMIM_inheritance : Multifactorial
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49534334-49562349; chr20:49534478-49562489
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : .
TS : .
DDD_HI_percent : 18.88
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
Closest_left : ASIP
Closest_right : ITCH
.Location : .
CytoBand : q11.22
180960; OMIM_ID : 180960;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287; morbid:AHCY
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881; 20:34280268-34311836
po_P_loss_percent : 0.00; 0.02; 0.01; 1.58
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:34292840-34293905
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:34292840-34293905 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:34292641-34292815
Repeat_type_left : MIRb
Gap_left : .
GC_content_left : 0.575
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:34293398-34293485
Repeat_type_right : AluSz6
Gap_right : .
GC_content_right : 0.510
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
AHCYGene_name : AHCY;
LOEUF_bin : 3
GnomAD_pLI : 3.5922e-02
ExAC_pLI : 9.4407e-01
HI : 30
TS : 0
DDD_HI_percent : 18.88
ACMG : .
ExAC_cnvZ : -2.18693174638708
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.71698637074454
ExAC_synZ : -0.185281858750464
ExAC_misZ : 2.04452899953228
GenCC_disease : hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
GenCC_moi : AR
GenCC_classification : Moderate; Strong; Supportive
GenCC_pmid : 15024124; 16435181[PMID]; 19177456; 20852937; 22959829; 26527160
NCBI_gene_ID : 191
intron3-intron3Location : intron3-intron3
CytoBand : q11.22
Location2 : CDS
Tx : XM_047439962
Tx_version : 1
Tx_start : 34231980
Tx_end : 34303355
Exon_count : 11
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 400
Nearest_SS_type : 3'
Intersect_start : 34292907
Intersect_end : 34293407
180960; OMIM_ID : 180960;
OMIM_phenotype : Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3) AR;
OMIM_inheritance : AR
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:34292840-34293905
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1389
Gene_count : 1
fullAnnotation_mode : full
SNTA1Gene_name : SNTA1;
LOEUF_bin : 3
GnomAD_pLI : 5.6417e-03
ExAC_pLI : 4.2824e-01
HI : .
TS : .
DDD_HI_percent : 24.92
ExAC_cnvZ : -1.95181405674932
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.13064045953842
ExAC_synZ : 0.386342937511477
ExAC_misZ : 0.795193530720746
Closest_left : LOC124904889
Closest_right : CBFA2T2
.Location : .
CytoBand : q11.21
601017; OMIM_ID : 601017;
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : Long QT syndrome 12, 612955 (3) AD
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; morbid:SNTA1
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33407957-33443763
po_P_loss_percent : 0.01; 0.04; 3.88
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:33409542-33561500
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:33409542-33561500 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33421019-33421200; 20:33421210-33421329
Repeat_type_left : AluJb; MIR
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:33422161-33422466; 20:33422498-33422772
Repeat_type_right : AluSc; AluJb
Gap_right : .
GC_content_right : 0.510
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 1389
splitAnnotation_mode : split
SNTA1Gene_name : SNTA1;
LOEUF_bin : 3
GnomAD_pLI : 5.6417e-03
ExAC_pLI : 4.2824e-01
HI : .
TS : .
DDD_HI_percent : 24.92
ACMG : .
ExAC_cnvZ : -1.95181405674932
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -1.13064045953842
ExAC_synZ : 0.386342937511477
ExAC_misZ : 0.795193530720746
GenCC_disease : long QT syndrome; long QT syndrome 12
GenCC_moi : AD
GenCC_classification : Disputed Evidence; Limited
GenCC_pmid : 18591664; 19684871; 19862833; 20009079; 23376825; 24319568; 27028743; 28416588; 28600387; 28837624
NCBI_gene_ID : 6640
intron2-intron2Location : intron2-intron2
CytoBand : q11.21
Location2 : CDS
Tx : XM_024451971
Tx_version : 2
Tx_start : 33407956
Tx_end : 33441312
Exon_count : 8
Overlapped_tx_length : 1389
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3203
Nearest_SS_type : 3'
Intersect_start : 33421126
Intersect_end : 33422515
601017; OMIM_ID : 601017;
OMIM_phenotype : Long QT syndrome 12, 612955 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:33409542-33561500
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1000
Gene_count : 1
fullAnnotation_mode : full
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
Closest_left : LOC105372703
Closest_right : LOC100128310
.Location : .
CytoBand : q13.33
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:61454236-61685901
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:61454236-61685901 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:61637066-61637109; 20:61637124-61637209
Repeat_type_left : (TTTTG)n; L1MC4a
Gap_left : .
GC_content_left : 0.515
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:61637739-61638061
Repeat_type_right : AluSq
Gap_right : .
GC_content_right : 0.495
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 1000
splitAnnotation_mode : split
CDH4Gene_name : CDH4;
LOEUF_bin : 1
GnomAD_pLI : 7.4348e-01
ExAC_pLI : 9.6699e-01
HI : .
TS : .
DDD_HI_percent : 36.97
ACMG : .
ExAC_cnvZ : 0.359975831988571
ExAC_delZ : 1.0263721335426
ExAC_dupZ : -0.0547762026548261
ExAC_synZ : 0.441877137052085
ExAC_misZ : 2.49014599267761
GenCC_disease : multiple congenital anomalies/dysmorphic syndrome
GenCC_moi : AR
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 1002
intron2-intron2Location : intron2-intron2
CytoBand : q13.33
Location2 : CDS
Tx : NM_001794
Tx_version : 5
Tx_start : 61252260
Tx_end : 61940617
Exon_count : 16
Overlapped_tx_length : 1000
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 105535
Nearest_SS_type : 3'
Intersect_start : 61637027
Intersect_end : 61638027
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:61454236-61685901
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2087
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.04; 0.05; 0.09; 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49210026-49218326
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:49210026-49218326 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49210776-49210798; 20:49210799-49211375
Repeat_type_left : FAM; L1MB5
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49212616-49212897; 20:49212997-49213228
Repeat_type_right : AluSp; AluJb
Gap_right : .
GC_content_right : 0.395
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 2087
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 2087
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 6310
Nearest_SS_type : 5'
Intersect_start : 49210838
Intersect_end : 49212925
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49210026-49218326
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1316
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.02; 0.03; 0.06; 0.05
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49210026-49218326
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:49210026-49218326 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49210776-49210798; 20:49210799-49211375
Repeat_type_left : FAM; L1MB5
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49211990-49212286
Repeat_type_right : AluJb
Gap_right : .
GC_content_right : 0.515
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 1316
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 1316
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7081
Nearest_SS_type : 5'
Intersect_start : 49210838
Intersect_end : 49212154
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49210026-49218326
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
Closest_left : CSE1L
Closest_right : DDX27
.Location : .
CytoBand : q13.13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv17955881; dbVar:nssv15150235; dbVar:nssv8639742; dbVar:nssv15150226
po_P_loss_coord : 20:44356405-49982509; 20:49011308-53428941; 20:49066126-51268444; 20:49109985-51811110
po_P_loss_percent : 0.01; 0.01; 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49210026-49218326
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:49210026-49218326 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:49210776-49210798; 20:49210799-49211375
Repeat_type_left : FAM; L1MB5
Gap_left : .
GC_content_left : 0.305
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:49210799-49211375; 20:49211376-49211505
Repeat_type_right : L1MB5; FAM
Gap_right : .
GC_content_right : 0.390
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
STAU1Gene_name : STAU1;
LOEUF_bin : 0
GnomAD_pLI : 9.9976e-01
ExAC_pLI : 9.9642e-01
HI : .
TS : .
DDD_HI_percent : 10.91
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -1.79591240511594
ExAC_dupZ : -2.53125239294469
ExAC_synZ : -0.823841250039382
ExAC_misZ : 1.71860585563274
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6780
intron1-intron1Location : intron1-intron1
CytoBand : q13.13
Location2 : 5'UTR
Tx : NM_001319135
Tx_version : 2
Tx_start : 49113338
Tx_end : 49219295
Exon_count : 15
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7897
Nearest_SS_type : 5'
Intersect_start : 49210838
Intersect_end : 49211338
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:49210026-49218326
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 301
Gene_count : 1
fullAnnotation_mode : full
NCOA3Gene_name : NCOA3;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 16.22
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.511158738801683
ExAC_misZ : -0.505371555325067
Closest_left : LINC01754
Closest_right : SULF2
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv17955881
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:44356405-49982509
po_P_loss_percent : 0.00; 0.00; 0.00; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:47537836-47543309
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:47537836-47543309 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:47538547-47538843
Repeat_type_left : AluSg
Gap_left : .
GC_content_left : 0.340
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:47538547-47538843
Repeat_type_right : AluSg
Gap_right : .
GC_content_right : 0.460
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 301
splitAnnotation_mode : split
NCOA3Gene_name : NCOA3;
LOEUF_bin : 1
GnomAD_pLI : 5.4065e-01
ExAC_pLI : 9.9992e-01
HI : .
TS : .
DDD_HI_percent : 16.22
ACMG : .
ExAC_cnvZ : 1.4781806390142e-05
ExAC_delZ : -1.25129113368909
ExAC_dupZ : 0.967094670097161
ExAC_synZ : -0.511158738801683
ExAC_misZ : -0.505371555325067
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 8202
intron1-intron1Location : intron1-intron1
CytoBand : q13.12
Location2 : 5'UTR
Tx : NM_001174087
Tx_version : 2
Tx_start : 47501886
Tx_end : 47656872
Exon_count : 23
Overlapped_tx_length : 301
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 36477
Nearest_SS_type : 5'
Intersect_start : 47538496
Intersect_end : 47538797
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:47537836-47543309
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 704
Gene_count : 1
fullAnnotation_mode : full
MROH8Gene_name : MROH8;
LOEUF_bin : 4
GnomAD_pLI : 3.3158e-16
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 69.39
ExAC_cnvZ : -0.93782042275729
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.857993812084429
ExAC_synZ : .
ExAC_misZ : .
Closest_left : RBL1
Closest_right : RPN2
.Location : .
CytoBand : q11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.00; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:37103505-37123121
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:37103505-37123121 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:37121180-37121225; 20:37121227-37121532
Repeat_type_left : (TCTTTT)n; AluSx
Gap_left : .
GC_content_left : 0.485
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:37121771-37121957; 20:37121958-37122239
Repeat_type_right : AluJr; AluJb
Gap_right : .
GC_content_right : 0.475
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 704
splitAnnotation_mode : split
MROH8Gene_name : MROH8;
LOEUF_bin : 4
GnomAD_pLI : 3.3158e-16
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 69.39
ACMG : .
ExAC_cnvZ : -0.93782042275729
ExAC_delZ : -2.62354415217069
ExAC_dupZ : 0.857993812084429
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140699
intron15-intron15Location : intron15-intron15
CytoBand : q11.23
Location2 : CDS
Tx : NM_152503
Tx_version : 8
Tx_start : 37101166
Tx_end : 37179548
Exon_count : 25
Overlapped_tx_length : 704
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 285
Nearest_SS_type : 3'
Intersect_start : 37121321
Intersect_end : 37122025
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:37103505-37123121
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1429
Gene_count : 1
fullAnnotation_mode : full
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
Closest_left : SNTA1
Closest_right : NECAB3
.Location : .
CytoBand : q11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500; dbVar:nssv15147287
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288; 20:33432364-36821881
po_P_loss_percent : 0.01; 0.05; 0.04
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:33586659-33597547; chr20:33586676-33597548
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:33586676-33597548 dbVar;
po_B_loss_someG_coord : chr20:33586659-33597547 dbVar; chr20:33590169-33590317 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33588665-33588970
Repeat_type_left : AluSz
Gap_left : .
GC_content_left : 0.345
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.395
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 1429
splitAnnotation_mode : split
CBFA2T2Gene_name : CBFA2T2;
LOEUF_bin : 0
GnomAD_pLI : 9.9585e-01
ExAC_pLI : 9.9936e-01
HI : .
TS : .
DDD_HI_percent : 29.51
ACMG : .
ExAC_cnvZ : -1.41702937703016
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.106493023926055
ExAC_synZ : -0.165134997894128
ExAC_misZ : 2.71892637567166
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 9139
intron1-intron1Location : intron1-intron1
CytoBand : q11.22
Location2 : CDS
Tx : NM_001032999
Tx_version : 3
Tx_start : 33490095
Tx_end : 33650030
Exon_count : 11
Overlapped_tx_length : 1429
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 16522
Nearest_SS_type : 3'
Intersect_start : 33589004
Intersect_end : 33590433
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:33586659-33597547; chr20:33586676-33597548
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1051
Gene_count : 1
fullAnnotation_mode : full
BPIFB3Gene_name : BPIFB3;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 72.06
ExAC_cnvZ : -1.5926808300207
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.247525500012051
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.676082883446531
Closest_left : BPIFB6
Closest_right : BPIFB4
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv17971500
po_P_loss_coord : 20:32236739-47669019; 20:32602193-35699288
po_P_loss_percent : 0.01; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:33064626-33075377
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:33064626-33075377 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:33068044-33068600
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.505
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.625
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 1051
splitAnnotation_mode : split
BPIFB3Gene_name : BPIFB3;
LOEUF_bin : 7
GnomAD_pLI : 3.6763e-13
ExAC_pLI : 1.2701e-05
HI : .
TS : .
DDD_HI_percent : 72.06
ACMG : .
ExAC_cnvZ : -1.5926808300207
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.247525500012051
ExAC_synZ : 0.148474694246789
ExAC_misZ : -0.676082883446531
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 359710
intron10-intron11Location : intron10-intron11
CytoBand : q11.21
Location2 : CDS
Tx : NM_001376932
Tx_version : 3
Tx_start : 33053902
Tx_end : 33073847
Exon_count : 16
Overlapped_tx_length : 1051
Overlapped_CDS_length : 171
Overlapped_CDS_percent : 12
Frameshift : no
Dist_nearest_SS : 230
Nearest_SS_type : 5'
Intersect_start : 33068152
Intersect_end : 33069203
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:33064626-33075377
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3150
Gene_count : 1
fullAnnotation_mode : full
FAM242AGene_name : FAM242A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372586
Closest_right : FRG1BP
.Location : .
CytoBand : q11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:54645B_loss_source : DDD:54645
B_loss_coord : 20:30185677-30402487
B_loss_AFmax : 0.0260
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : 20:30185677-30402487 DDD:54645
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:30286389-30346082; 20:30335906-30345780; 20:30335906-30345780; 20:30335906-30345815; 20:30335906-30346082; 20:30337808-30346082; 20:30337809-30345815; 20:30337809-30345815; 20:30337818-30345815; 20:30340869-30345815; 20:30340869-30345815; 20:30344195-30346082; 20:30344195-30346082; 20:30344195-30346082; 20:30344214-30345427; 20:30344245-30380503
Repeat_coord_left : 20:30344788-30344933
Repeat_type_left : AluJr4
Gap_left : .
GC_content_left : 0.530
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:30344245-30380503; 20:30346079-30364390; 20:30346079-30399907; 20:30346079-30424678; 20:30346079-30425126; 20:30346084-30392621; 20:30346084-30401216; 20:30346084-30425128; 20:30346085-30417150; 20:30346101-30353899; 20:30347157-30351275
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.490
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 3150
splitAnnotation_mode : split
FAM242AGene_name : FAM242A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105372587
intron3-intron3Location : intron3-intron3
CytoBand : q11.1
Location2 : UTR
Tx : NR_187586
Tx_version : 1
Tx_start : 30323310
Tx_end : 30361975
Exon_count : 5
Overlapped_tx_length : 3150
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 2223
Nearest_SS_type : 5'
Intersect_start : 30344958
Intersect_end : 30348108
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:54645B_loss_source : DDD:54645
B_loss_coord : 20:30185677-30402487
B_loss_AFmax : 0.0260
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2230
Gene_count : 1
fullAnnotation_mode : full
FAM182AGene_name : FAM182A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC100134868
Closest_right : NCOR1P1
.Location : .
CytoBand : p11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:54621; dbVarB_loss_source : DDD:54621; dbVar
B_loss_coord : chr20:25952263-26077964; 20:26059252-26119457
B_loss_AFmax : 0.0284
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 20:26059252-26119457 DDD:54621
po_B_loss_someG_coord : chr20:25952263-26077964 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:26010758-26103777; 20:26055373-26072697; 20:26056711-26189680; 20:26058784-26145928
Repeat_coord_left : 20:26060877-26061849
Repeat_type_left : SST1
Gap_left : .
GC_content_left : 0.560
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:26010758-26103777; 20:26055373-26072697; 20:26056711-26189680; 20:26058784-26145928
Repeat_coord_right : 20:26062672-26064073
Repeat_type_right : SST1
Gap_right : .
GC_content_right : 0.645
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 2230
splitAnnotation_mode : split
FAM182AGene_name : FAM182A;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 284800
intron1-intron1Location : intron1-intron1
CytoBand : p11.1
Location2 : UTR
Tx : NR_026713
Tx_version : 1
Tx_start : 26054613
Tx_end : 26086917
Exon_count : 5
Overlapped_tx_length : 2230
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 5138
Nearest_SS_type : 3'
Intersect_start : 26061548
Intersect_end : 26063778
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
DDD:54621; dbVarB_loss_source : DDD:54621; dbVar
B_loss_coord : chr20:25952263-26077964; 20:26059252-26119457
B_loss_AFmax : 0.0284
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 808
Gene_count : 1
fullAnnotation_mode : full
LINC02967Gene_name : LINC02967;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC124904881
Closest_right : CST7
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664
po_P_loss_coord : 20:18520274-25866684
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:24919864-24932614
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:24919864-24932614 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:24927945-24932579
Repeat_type_left : HERVE-int
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:24927945-24932579
Repeat_type_right : HERVE-int
Gap_right : .
GC_content_right : 0.540
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 808
splitAnnotation_mode : split
LINC02967Gene_name : LINC02967;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 105372578
intron1-intron1Location : intron1-intron1
CytoBand : p11.21
Location2 : UTR
Tx : XR_001754563
Tx_version : 2
Tx_start : 24918563
Tx_end : 24932985
Exon_count : 3
Overlapped_tx_length : 808
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 177
Nearest_SS_type : 3'
Intersect_start : 24929653
Intersect_end : 24930461
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:24919864-24932614
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SYNDIG1Gene_name : SYNDIG1;
LOEUF_bin : 4
GnomAD_pLI : 3.0249e-01
ExAC_pLI : 4.3364e-01
HI : .
TS : .
DDD_HI_percent : 51.02
ExAC_cnvZ : 0.673932505046786
ExAC_delZ : 1.12306016668155
ExAC_dupZ : 0.292572732167135
ExAC_synZ : -0.0749327169610391
ExAC_misZ : 0.518534426421545
Closest_left : LOC105372577
Closest_right : LOC107985402
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664
po_P_loss_coord : 20:18520274-25866684
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:24092364-24552364; chr20:24521298-24528572
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:24521298-24528572 dbVar
po_B_loss_someG_coord : chr20:24092364-24552364 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.465
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:24524364-24524661
Repeat_type_right : AluY
Gap_right : .
GC_content_right : 0.495
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SYNDIG1Gene_name : SYNDIG1;
LOEUF_bin : 4
GnomAD_pLI : 3.0249e-01
ExAC_pLI : 4.3364e-01
HI : .
TS : .
DDD_HI_percent : 51.02
ACMG : .
ExAC_cnvZ : 0.673932505046786
ExAC_delZ : 1.12306016668155
ExAC_dupZ : 0.292572732167135
ExAC_synZ : -0.0749327169610391
ExAC_misZ : 0.518534426421545
GenCC_disease : Tourette syndrome
GenCC_moi : .
GenCC_classification : No Known Disease Relationship
GenCC_pmid : 28472652
NCBI_gene_ID : 79953
intron1-intron1Location : intron1-intron1
CytoBand : p11.21
Location2 : 5'UTR
Tx : XM_017028069
Tx_version : 3
Tx_start : 24469628
Tx_end : 24548629
Exon_count : 3
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 18615
Nearest_SS_type : 3'
Intersect_start : 24523904
Intersect_end : 24524404
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:24092364-24552364; chr20:24521298-24528572
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 824
Gene_count : 1
fullAnnotation_mode : full
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
Closest_left : KIZ-AS1
Closest_right : NKX2-4
.Location : .
CytoBand : p11.22
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.01; 0.02; 0.01; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:p[...]B_loss_source : 1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:pbsv.DEL.1568; IMH; dbVar; esv3645493; gnomAD-SV_v3_DEL_chr20_e3266c33
B_loss_coord : 20:21305086-21308265; chr20:21305200-21308111; chr20:21305263-21307941; chr20:21305450-21308134; 20:21305451-21308134; 20:21305451-21308134; 20:21305452-21308134; chr20:21305452-21308134; chr20:21305489-21308111
B_loss_AFmax : 0.8609
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:21305200-21308111 gnomAD-SV_v3_DEL_chr20_e3266c33; chr20:21305450-21308134 dbVar; 20:21305451-21308134 esv3645493; chr20:21305452-21308134 HPRC:pbsv.DEL.1568; 20:21306665-21307434 nsv514936
po_B_loss_someG_coord : 20:21305086-21308265 IMH; chr20:21305263-21307941 dbVar; 20:21305451-21308134 1000g; 20:21305452-21308134 CMRI:0_pbsv.DEL.272_duplicate6; chr20:21305489-21308111 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:21306550-21306670; 20:21306728-21307011
Repeat_type_left : MIR; AluSc
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:21307472-21307534; 20:21307535-21307634
Repeat_type_right : L1MA9; FRAM
Gap_right : .
GC_content_right : 0.370
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 824
splitAnnotation_mode : split
XRN2Gene_name : XRN2;
LOEUF_bin : 1
GnomAD_pLI : 3.4851e-01
ExAC_pLI : 8.1317e-01
HI : .
TS : .
DDD_HI_percent : 12.25
ACMG : .
ExAC_cnvZ : 0.917232134785784
ExAC_delZ : 1.00657149428705
ExAC_dupZ : 0.677183425574012
ExAC_synZ : -0.12051212357163
ExAC_misZ : 2.06750925601165
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 22803
intron1-intron1Location : intron1-intron1
CytoBand : p11.22
Location2 : CDS
Tx : NM_012255
Tx_version : 5
Tx_start : 21303330
Tx_end : 21389825
Exon_count : 30
Overlapped_tx_length : 824
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3192
Nearest_SS_type : 5'
Intersect_start : 21306665
Intersect_end : 21307489
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:p[...]B_loss_source : 1000g; CMRI:0_pbsv.DEL.272_duplicate6; HPRC:pbsv.DEL.1568; IMH; dbVar; esv3645493; gnomAD-SV_v3_DEL_chr20_e3266c33
B_loss_coord : 20:21305086-21308265; chr20:21305200-21308111; chr20:21305263-21307941; chr20:21305450-21308134; 20:21305451-21308134; 20:21305451-21308134; 20:21305452-21308134; chr20:21305452-21308134; chr20:21305489-21308111
B_loss_AFmax : 0.8609
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2445
Gene_count : 1
fullAnnotation_mode : full
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
Closest_left : INSM1
Closest_right : LOC105372555
.Location : .
CytoBand : p11.23
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv16208567; dbVar:nssv15134157; dbVar:nssv15161664; dbVar:nssv17969241
po_P_loss_coord : 20:8591050-22108012; 20:17772772-21426789; 20:18520274-25866684; 20:19312282-22206759
po_P_loss_percent : 0.02; 0.07; 0.03; 0.08
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:20612004-20621006
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:20612004-20621006 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.285
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:20617958-20618157
Repeat_type_right : MER6B
Gap_right : .
GC_content_right : 0.470
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 2445
splitAnnotation_mode : split
RALGAPA2Gene_name : RALGAPA2;
LOEUF_bin : 3
GnomAD_pLI : 3.0325e-17
ExAC_pLI : 8.4878e-06
HI : .
TS : .
DDD_HI_percent : 22.17
ACMG : .
ExAC_cnvZ : 1.13438908095725
ExAC_delZ : 0.735250320482795
ExAC_dupZ : 1.13402489714326
ExAC_synZ : -2.26507883160964
ExAC_misZ : -1.04803050468324
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 57186
intron12-intron13Location : intron12-intron13
CytoBand : p11.23
Location2 : CDS
Tx : NM_020343
Tx_version : 4
Tx_start : 20389529
Tx_end : 20712644
Exon_count : 40
Overlapped_tx_length : 2445
Overlapped_CDS_length : 149
Overlapped_CDS_percent : 2
Frameshift : yes
Dist_nearest_SS : 232
Nearest_SS_type : 5'
Intersect_start : 20615810
Intersect_end : 20618255
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:20612004-20621006
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 3243
Gene_count : 1
fullAnnotation_mode : full
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
Closest_left : LOC124904874
Closest_right : LOC124904875
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.02; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:16345165-16460582
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:16345165-16460582 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:16348305-16348421
Repeat_type_left : MIR3
Gap_left : .
GC_content_left : 0.335
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.500
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 3243
splitAnnotation_mode : split
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ACMG : .
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55614
intron22-intron22Location : intron22-intron22
CytoBand : p12.1
Location2 : CDS
Tx : NM_001199865
Tx_version : 2
Tx_start : 16272103
Tx_end : 16573448
Exon_count : 25
Overlapped_tx_length : 3243
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 4850
Nearest_SS_type : 5'
Intersect_start : 16348236
Intersect_end : 16351479
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:16345165-16460582
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 985
Gene_count : 1
fullAnnotation_mode : full
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
Closest_left : LOC124904874
Closest_right : LOC124904875
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:16345165-16460582
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:16345165-16460582 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:16348597-16349409
Repeat_type_right : LTR102_Mam
Gap_right : .
GC_content_right : 0.390
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 985
splitAnnotation_mode : split
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ACMG : .
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55614
intron22-intron22Location : intron22-intron22
CytoBand : p12.1
Location2 : CDS
Tx : NM_001199865
Tx_version : 2
Tx_start : 16272103
Tx_end : 16573448
Exon_count : 25
Overlapped_tx_length : 985
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 7608
Nearest_SS_type : 5'
Intersect_start : 16347736
Intersect_end : 16348721
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:16345165-16460582
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
Closest_left : LOC124904874
Closest_right : LOC124904875
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:16345165-16460582
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:16345165-16460582 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.360
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:16348305-16348421
Repeat_type_right : MIR3
Gap_right : .
GC_content_right : 0.335
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
KIF16BGene_name : KIF16B;
LOEUF_bin : 4
GnomAD_pLI : 2.1000e-19
ExAC_pLI : 4.3534e-13
HI : .
TS : .
DDD_HI_percent : 44.94
ACMG : .
ExAC_cnvZ : -1.16189573124657
ExAC_delZ : -1.60172301045439
ExAC_dupZ : -1.02936418591749
ExAC_synZ : 0.550930180287603
ExAC_misZ : 1.01862143775346
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 55614
intron22-intron22Location : intron22-intron22
CytoBand : p12.1
Location2 : CDS
Tx : NM_001199865
Tx_version : 2
Tx_start : 16272103
Tx_end : 16573448
Exon_count : 25
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 8093
Nearest_SS_type : 5'
Intersect_start : 16347736
Intersect_end : 16348236
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:16345165-16460582
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
MACROD2Gene_name : MACROD2;
LOEUF_bin : 2
GnomAD_pLI : 4.3472e-01
ExAC_pLI : 1.1357e-02
HI : .
TS : .
DDD_HI_percent : 1.49
ExAC_cnvZ : -0.692742758341261
ExAC_delZ : -1.18278709618643
ExAC_dupZ : -0.597815534527543
ExAC_synZ : 0.337580800459273
ExAC_misZ : 0.372539789325987
Closest_left : MACROD2-IT1
Closest_right : MACROD2-AS1
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567; dbVar:nssv15145452; dbVar:nssv15145224
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012; 20:14631585-14707775; 20:14656735-14876708
po_P_loss_percent : 0.00; 0.00; 0.66; 0.23
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:14567859-14791891; chr20:14574066-14695632; chr20:14579243-14675490; chr20:14609532-14707584; chr20:14613766-14772847; chr20:14628849-14822341; chr20:14630559-14798423; chr20:14637816-14677868
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:14574066-14695632 dbVar; chr20:14609532-14707584 dbVar; chr20:14628849-14822341 dbVar; chr20:14637816-14677868 dbVar
po_B_loss_someG_coord : chr20:14567859-14791891 dbVar; chr20:14579243-14675490 dbVar; chr20:14613766-14772847 dbVar; chr20:14630559-14798423 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:14665127-14665220
Repeat_type_left : L2a
Gap_left : .
GC_content_left : 0.365
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.310
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
MACROD2Gene_name : MACROD2;
LOEUF_bin : 2
GnomAD_pLI : 4.3472e-01
ExAC_pLI : 1.1357e-02
HI : .
TS : .
DDD_HI_percent : 1.49
ACMG : .
ExAC_cnvZ : -0.692742758341261
ExAC_delZ : -1.18278709618643
ExAC_dupZ : -0.597815534527543
ExAC_synZ : 0.337580800459273
ExAC_misZ : 0.372539789325987
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 140733
intron4-intron4Location : intron4-intron4
CytoBand : p12.1
Location2 : CDS
Tx : NM_001351661
Tx_version : 2
Tx_start : 13995515
Tx_end : 16053197
Exon_count : 18
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 19105
Nearest_SS_type : 3'
Intersect_start : 14665237
Intersect_end : 14665737
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:14567859-14791891; chr20:14574066-14695632; chr20:14579243-14675490; chr20:14609532-14707584; chr20:14613766-14772847; chr20:14628849-14822341; chr20:14630559-14798423; chr20:14637816-14677868
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
SLX4IPGene_name : SLX4IP;
LOEUF_bin : 8
GnomAD_pLI : 1.7889e-12
ExAC_pLI : 2.3388e-05
HI : .
TS : .
DDD_HI_percent : 38.46
ExAC_cnvZ : 0.683703266516
ExAC_delZ : 0.566966042547541
ExAC_dupZ : 0.473110092947096
ExAC_synZ : 0.181971663898555
ExAC_misZ : -0.533983058360639
Closest_left : LOC128706666
Closest_right : JAG1
.Location : .
CytoBand : p12.2
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv17976887; dbVar:nssv15149999; dbVar:nssv15146659; dbVar:nssv15147127; dbVar:nssv16208567; dbVar:nssv15147284; dbVar:nssv15606052; dbVar:nssv15771677
po_P_loss_coord : 20:3112094-17110808; 20:3197894-11867735; 20:4412284-12687121; 20:6617696-13392559; 20:7566645-11028694; 20:8591050-22108012; 20:9550976-12083434; 20:10144208-11498457; 20:10253610-10673550
po_P_loss_percent : 0.00; 0.01; 0.01; 0.01; 0.01; 0.00; 0.02; 0.04; 0.12
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:10378477-10543166
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:10378477-10543166 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:10438473-10438769
Repeat_type_left : AluSx1
Gap_left : .
GC_content_left : 0.435
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:10438878-10439005; 20:10439008-10439154
Repeat_type_right : FLAM_C; L1ME1
Gap_right : .
GC_content_right : 0.330
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
SLX4IPGene_name : SLX4IP;
LOEUF_bin : 8
GnomAD_pLI : 1.7889e-12
ExAC_pLI : 2.3388e-05
HI : .
TS : .
DDD_HI_percent : 38.46
ACMG : .
ExAC_cnvZ : 0.683703266516
ExAC_delZ : 0.566966042547541
ExAC_dupZ : 0.473110092947096
ExAC_synZ : 0.181971663898555
ExAC_misZ : -0.533983058360639
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 128710
intron1-intron1Location : intron1-intron1
CytoBand : p12.2
Location2 : 5'UTR
Tx : NM_001009608
Tx_version : 3
Tx_start : 10435304
Tx_end : 10628030
Exon_count : 8
Overlapped_tx_length : 500
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 3119
Nearest_SS_type : 5'
Intersect_start : 10438572
Intersect_end : 10439072
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:10378477-10543166
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (1 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 1
fullAnnotation_mode : full
TRIB3Gene_name : TRIB3;
LOEUF_bin : 9
GnomAD_pLI : 1.1597e-13
ExAC_pLI : 2.1162e-10
HI : .
TS : .
DDD_HI_percent : 70.41
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.692674270052909
ExAC_synZ : 0.287188524660528
ExAC_misZ : -0.0205943258126166
Closest_left : NRSN2
Closest_right : RBCK1
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
SLC52A3 (morbid/RE=EA_enhancer); CSNK2A1 (mor[...]RE_gene : SLC52A3 (morbid/RE=EA_enhancer); CSNK2A1 (morbid/RE=EA_enhancer); RBCK1 (morbid/RE=EA_enhancer); TBC1D20 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15141965; dbVar:nssv16254000; dbVar:nssv17969230; dbVar:nssv16215275; dbVar:nssv16867400; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv15134311; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572
po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:80928-450858; 20:80928-696793; 20:80928-826235; 20:82604-833237; 20:87138-994198; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:89940-975656; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966
po_P_loss_percent : 0.04; 0.04; 0.04; 0.03; 0.03; 0.03; 0.03; 0.02; 0.14; 0.08; 0.07; 0.07; 0.06; 0.04; 0.04; 0.03; 0.03; 0.03; 0.06; 0.02; 0.02; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:383851-400250; chr20:384509-399099; chr20:385214-399104; chr20:385391-399238; chr20:387037-399233; chr20:387040-418619
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:384509-399099 dbVar; chr20:385391-399238 dbVar; chr20:387040-418619 dbVar
po_B_loss_someG_coord : chr20:383851-400250 dbVar; chr20:385214-399104 dbVar; chr20:387037-399233 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:390720-391024
Repeat_type_left : AluSx
Gap_left : .
GC_content_left : 0.525
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.650
full=1ACMG_class : full=1
DELSV_type : DEL
SV_length : 500
splitAnnotation_mode : split
TRIB3Gene_name : TRIB3;
LOEUF_bin : 9
GnomAD_pLI : 1.1597e-13
ExAC_pLI : 2.1162e-10
HI : .
TS : .
DDD_HI_percent : 70.41
ACMG : .
ExAC_cnvZ : -2.47162789907313
ExAC_delZ : -2.62354415217069
ExAC_dupZ : -0.692674270052909
ExAC_synZ : 0.287188524660528
ExAC_misZ : -0.0205943258126166
GenCC_disease : cardiomyopathy
GenCC_moi : AD
GenCC_classification : Limited
GenCC_pmid : .
NCBI_gene_ID : 57761
intron2-exon3Location : intron2-exon3
CytoBand : p13
Location2 : CDS
Tx : NM_021158
Tx_version : 5
Tx_start : 380759
Tx_end : 397559
Exon_count : 4
Overlapped_tx_length : 500
Overlapped_CDS_length : 76
Overlapped_CDS_percent : 7
Frameshift : yes
Dist_nearest_SS : 76
Nearest_SS_type : 3'
Intersect_start : 390862
Intersect_end : 391362
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:383851-400250; chr20:384509-399099; chr20:385214-399104; chr20:385391-399238; chr20:387037-399233; chr20:387040-418619
B_loss_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : GTSF1L
Closest_right : LOC101927200
.Location : .
CytoBand : q13.12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665; dbVar:nssv18788532
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806; 20:43594700-46010118
po_P_loss_percent : 0.00; 0.00; 0.00; 0.02
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:43717799-43731412; chr20:43718815-43731133
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:43718815-43731133 dbVar
po_B_loss_someG_coord : chr20:43717799-43731412 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.495
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:43728095-43728303
Repeat_type_right : MER58A
Gap_right : .
GC_content_right : 0.350
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1580
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC102724950
Closest_right : LOC105372614
.Location : .
CytoBand : q12
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15124240; dbVar:nssv15148150; dbVar:nssv16207665
po_P_loss_coord : 20:32236739-47669019; 20:35237947-47631818; 20:36352028-48177806
po_P_loss_percent : 0.01; 0.01; 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:39704716-39713672
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : 20:39708990-39709127 CMRI:0_pbsv.DEL.522_duplicate10; 20:39708991-39709127 1000g; chr20:39709005-39709127 gnomAD-SV_v3_DEL_chr20_749d8b59
po_B_loss_someG_coord : chr20:39704716-39713672 dbVar; chr20:39708990-39709127 HPRC:pbsv.DEL.3103; chr20:39708991-39709127 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.355
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.310
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 751
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : DEFB116
Closest_right : DEFB118
.Location : .
CytoBand : q11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : .
po_P_loss_coord : .
po_P_loss_percent : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:31257358-31413171
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:31257358-31413171 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:31315388-31315868
Repeat_type_left : L1ME3A
Gap_left : .
GC_content_left : 0.250
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:31316037-31316468
Repeat_type_right : L1ME3A
Gap_right : .
GC_content_right : 0.260
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : FAM182B
Closest_right : LOC101926935
.Location : .
CytoBand : p11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664
po_P_loss_coord : 20:18520274-25866684
po_P_loss_percent : 0.01
.P_snvindel_nb : .
P_snvindel_phen : .
HPRC:pbsv.DEL.1868B_loss_source : HPRC:pbsv.DEL.1868
B_loss_coord : chr20:25783207-25845155
B_loss_AFmax : 0.1165
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:25783207-25845155 HPRC:pbsv.DEL.1868
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : 20:25752457-25845152; 20:25794647-25833697; 20:25798702-25845152; 20:25806801-25845152; 20:25806803-25845152; 20:25806803-25845152; 20:25811477-25845152; 20:25816277-25845152; 20:25818361-25845152
Repeat_coord_left : 20:25828987-25829110
Repeat_type_left : HAL1b
Gap_left : .
GC_content_left : 0.295
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:25752457-25845152; 20:25794647-25833697; 20:25798702-25845152; 20:25806801-25845152; 20:25806803-25845152; 20:25806803-25845152; 20:25811477-25845152; 20:25816277-25845152; 20:25818361-25845152
Repeat_coord_right : 20:25829244-25829522; 20:25829613-25829890
Repeat_type_right : AluSz; AluSx1
Gap_right : .
GC_content_right : 0.440
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 1824
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : CST5
Closest_right : GGTLC1
.Location : .
CytoBand : p11.21
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15161664; dbVar:nssv15131690
po_P_loss_coord : 20:18520274-25866684; 20:21699708-24402817
po_P_loss_percent : 0.02; 0.07
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:23824091-24065887
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:23824091-24065887 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:23965839-23966067
Repeat_type_left : LOR1-int
Gap_left : .
GC_content_left : 0.465
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:23967614-23967748
Repeat_type_right : L2a
Gap_right : .
GC_content_right : 0.555
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 500
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : LOC105372542
Closest_right : SNRPB2
.Location : .
CytoBand : p12.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15156259; dbVar:nssv16208567
po_P_loss_coord : 20:3112094-17110808; 20:8591050-22108012
po_P_loss_percent : 0.00; 0.00
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:16710285-16713588
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : .
po_B_loss_someG_coord : chr20:16710285-16713588 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.350
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : .
Repeat_type_right : .
Gap_right : .
GC_content_right : 0.475
1ACMG_class : 1
AnnotSV_ranking_score : -1.6
AnnotSV_ranking_criteria :
1B (cf Gene_count, RE_gene, -0.60): Does NOT contain protein-coding or any known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 110
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : SLC52A3
Closest_right : FAM110A
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv17969230; dbVar:nssv16215275; dbVar:nssv16867400; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv15134311; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572; dbVar:nssv17976759
po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:80928-826235; 20:82604-833237; 20:87138-994198; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:89940-975656; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966; 20:453177-822262
po_P_loss_percent : 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.00; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.01; 0.03
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:817415-823695; chr20:818273-823350; chr20:819509-822261
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:818273-823350 dbVar;
po_B_loss_someG_coord : chr20:817415-823695 dbVar; chr20:819509-822261 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:820435-820574
Repeat_type_left : (TTCC)n
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:820435-820574
Repeat_type_right : (TTCC)n
Gap_right : .
GC_content_right : 0.350
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2F/4O (cf B_loss_source, -1.00): Completely contained within an established benign CNV region.
2B (cf po_P_loss_source, HI, OMIM_morbid, +0.00): Partial overlap of a known pathogenic Loss SV. The observed CNV does NOT contain a HI gene OR Unclear if known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic Loss SV
3A (0 gene, +0.00): 0–24 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DELSV_type : DEL
SV_length : 2024
Gene_count : 0
fullAnnotation_mode : full
.Gene_name : .
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : TRIB3
Closest_right : RBCK1
.Location : .
CytoBand : p13
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
CSNK2A1 (morbid/RE=EA_enhancer); RBCK1 (morbi[...]RE_gene : CSNK2A1 (morbid/RE=EA_enhancer); RBCK1 (morbid/RE=EA_enhancer); SLC52A3 (morbid/RE=EA_enhancer); TBC1D20 (morbid/RE=EA_enhancer);
.P_loss_coord : .
P_loss_source : .
P_loss_phen : .
P_loss_hpo : .
po_P_loss_phen : .
po_P_loss_hpo : .
po_P_loss_source : dbVar:nssv15136580; dbVar:nssv15137933; dbVar:nssv16208563; dbVar:nssv15141151; dbVar:nssv15139644; dbVar:nssv17969231; dbVar:nssv15156257; dbVar:nssv16208999; dbVar:nssv15141965; dbVar:nssv16254000; dbVar:nssv17969230; dbVar:nssv16215275; dbVar:nssv16867400; dbVar:nssv15132066; dbVar:nssv15133978; dbVar:nssv15134313; dbVar:nssv15132243; nssv15140024; dbVar:nssv15134312; dbVar:nssv15134311; dbVar:nssv8639966; dbVar:nssv15120677; dbVar:nssv15140572; dbVar:nssv16296985
po_P_loss_coord : 20:80094-1246766; 20:80107-1246891; 20:80928-1325327; 20:80928-1670774; 20:80928-1806080; 20:80928-1842894; 20:80928-2029688; 20:80928-2289131; 20:80928-450858; 20:80928-696793; 20:80928-826235; 20:82604-833237; 20:87138-994198; 20:89940-1360110; 20:89940-1494113; 20:89940-1770567; 20:89940-1852477; 20:89940-1939218; 20:89940-975656; 20:90383-2149100; 20:121782-2290194; 20:140881-2092966; 20:397493-566675
po_P_loss_percent : 0.17; 0.17; 0.16; 0.13; 0.12; 0.11; 0.10; 0.09; 0.55; 0.33; 0.27; 0.27; 0.22; 0.16; 0.14; 0.12; 0.11; 0.11; 0.23; 0.10; 0.09; 0.10; 1.20
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_loss_source : dbVar
B_loss_coord : chr20:387040-418619; chr20:399171-407440
B_loss_AFmax : 0.01
po_B_loss_allG_source : .
po_B_loss_allG_coord : .
po_B_loss_someG_source : chr20:387040-418619 dbVar;
po_B_loss_someG_coord : chr20:383851-400250 dbVar; chr20:399171-407440 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:399560-399706; 20:399807-400103
Repeat_type_left : MIRb; AluSz
Gap_left : .
GC_content_left : 0.480
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:401408-401714; 20:401715-402163
Repeat_type_right : AluSc; MER44D
Gap_right : .
GC_content_right : 0.335
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2D (cf B_gain_source, -1.00): Smaller than established benign copy-number gain, breakpoint(s) does not interrupt protein-coding genes.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2H-2 (THBD, +0.00): HI gene / morbid gene fully contained within observed copy-number gain and patient's phenotype is nonspecific with what is expected for LOF of that gene (Exomiser_gene_pheno_score < 0.7).
2L (LOC101929707/LOC124904964, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (4 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 49906
Gene_count : 4
fullAnnotation_mode : full
LOC101929707; SSTR4; THBD; LOC124904964; [...4genes]Gene_name : LOC101929707; SSTR4; THBD; LOC124904964;
LOEUF_bin : 4
GnomAD_pLI : 5.3769e-02
ExAC_pLI : 8.6909e-05
HI : .
TS : .
DDD_HI_percent : 80.46
ExAC_cnvZ : 0.72943116609748
ExAC_delZ : 0.405605223159341
ExAC_dupZ : 0.623262855036537
ExAC_synZ : 1.88513527185588
ExAC_misZ : 1.9035985677418
Closest_left : LOC107985449
Closest_right : CD93
.Location : .
CytoBand : p11.21
188040; OMIM_ID : 188040;
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
CST3 (morbid/RE=EA_enhancer); RE_gene : CST3 (morbid/RE=EA_enhancer);
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv18841995; dbVar:nssv15161655; dbVar:nssv15161728; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87154-23635465; 20:87197-30403687; 20:89940-25697564; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812
po_P_gain_percent : 0.17; 0.19; 0.08; 0.08; 0.08; 0.08; 0.21; 0.16; 0.19; 0.17; 0.19; 0.08; 0.17; 0.33; 0.30; 0.41; 0.61
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:22899195-23319697
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:23022364-23026241 dbVar; chr20:23022538-23026473 dbVar; chr20:23031575-23031637 dbVar
po_B_gain_someG_coord : chr20:22899195-23319697 dbVar; 20:23022365-23026241 1000g; chr20:23022625-23026495 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : 20:23016916-23017326; 20:23017356-23017530
Repeat_type_left : L1MEb; MIRb
Gap_left : .
GC_content_left : 0.520
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : .
Repeat_coord_right : 20:23066733-23067460
Repeat_type_right : L1ME2z
Gap_right : .
GC_content_right : 0.345
full=1ACMG_class : full=1
DUPSV_type : DUP
SV_length : 49906
splitAnnotation_mode : split
THBDGene_name : THBD;
LOEUF_bin : 4
GnomAD_pLI : 5.3769e-02
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : 80.46
ACMG : .
ExAC_cnvZ : 0.0119712806830718
ExAC_delZ : -0.280794408840804
ExAC_dupZ : 0.0609813722916084
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : atypical hemolytic-uremic syndrome with thrombomodulin anomaly; thrombomodulin-related bleeding disorder
GenCC_moi : AD; AR
GenCC_classification : Limited; Moderate; Strong; Supportive
GenCC_pmid : 10627464; 19625716; 20513133; 22036808; 23332921; 23787556; 25049278; 25049278[PMID]_25564403[PMID]; 25564403; 27064621; 7846065
NCBI_gene_ID : 7056
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_000361
Tx_version : 3
Tx_start : 23045632
Tx_end : 23049672
Exon_count : 1
Overlapped_tx_length : 4040
Overlapped_CDS_length : 1728
Overlapped_CDS_percent : 91
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 23045632
Intersect_end : 23049672
188040; OMIM_ID : 188040;
OMIM_phenotype : Thrombophilia 12 due to thrombomodulin defect, 614486 (3) AD;
(Hemolytic uremic syndrome, atypical, susceptibility to, 6), 612926 (3) AD;
OMIM_inheritance : AD
OMIM_morbid : yes
OMIM_morbid_candidate : yes
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:22899195-23319697
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=1ACMG_class : full=1
DUPSV_type : DUP
SV_length : 49906
splitAnnotation_mode : split
SSTR4Gene_name : SSTR4;
LOEUF_bin : 9
GnomAD_pLI : 3.6978e-13
ExAC_pLI : 8.6909e-05
HI : .
TS : .
DDD_HI_percent : 73.61
ACMG : .
ExAC_cnvZ : 0.72943116609748
ExAC_delZ : 0.405605223159341
ExAC_dupZ : 0.623262855036537
ExAC_synZ : 1.88513527185588
ExAC_misZ : 1.9035985677418
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : 6754
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.21
Location2 : 5'UTR-3'UTR
Tx : NM_001052
Tx_version : 4
Tx_start : 23035311
Tx_end : 23039237
Exon_count : 1
Overlapped_tx_length : 3926
Overlapped_CDS_length : 1167
Overlapped_CDS_percent : 31
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 23035311
Intersect_end : 23039237
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:22899195-23319697
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=1ACMG_class : full=1
DUPSV_type : DUP
SV_length : 49906
splitAnnotation_mode : split
LOC124904964Gene_name : LOC124904964;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-txEndLocation : intron1-txEnd
CytoBand : p11.21
Location2 : UTR
Tx : XR_007067745
Tx_version : 1
Tx_start : 23065138
Tx_end : 23069530
Exon_count : 2
Overlapped_tx_length : 2073
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 1682
Nearest_SS_type : 3'
Intersect_start : 23065138
Intersect_end : 23067211
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:22899195-23319697
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=1ACMG_class : full=1
DUPSV_type : DUP
SV_length : 49906
splitAnnotation_mode : split
LOC101929707Gene_name : LOC101929707;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-intron3Location : txStart-intron3
CytoBand : p11.21
Location2 : UTR
Tx : XR_007067730
Tx_version : 1
Tx_start : 22995707
Tx_end : 23030802
Exon_count : 8
Overlapped_tx_length : 13497
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 447
Nearest_SS_type : 3'
Intersect_start : 23017305
Intersect_end : 23030802
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:22899195-23319697
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
1ACMG_class : 1
AnnotSV_ranking_score : -1.0
AnnotSV_ranking_criteria :
1A (cf Gene_count, RE_gene, +0.00): Contains protein-coding or other known functionally important elements.
2D (cf B_gain_source, -1.00): Smaller than established benign copy-number gain, breakpoint(s) does not interrupt protein-coding genes.
2B (cf po_P_gain_source, TS, OMIM_morbid, +0.00): Partial overlap of a known pathogenic gain SV. The observed CNV does NOT contain the TS gene or critical region for this known pathogenic Gain SV OR Unclear if the known causative gene or critical region is affected OR No specific causative gene or critical region has been established for this known pathogenic SV.
2E (cf B_gain_source, +0.00): Smaller than established benign copy-number gain, breakpoint(s) potentially interrupts protein-coding gene.
2L (LOC107985400, +0.00): One or both breakpoints are within gene(s) of no established clinical significance.
3A (2 genes, +0.00): 0–34 genes wholly or partially included
5F (+0.00): Inheritance information is unavailable or uninformative.
DUPSV_type : DUP
SV_length : 22753
Gene_count : 2
fullAnnotation_mode : full
LOC107985400; LOC105372582; [...2genes]Gene_name : LOC107985400; LOC105372582;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
Closest_left : ZNF337
Closest_right : FAM182B
.Location : .
CytoBand : p11.1
.OMIM_ID : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
NAPhenoGenius_specificity : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
po_P_gain_phen : .
po_P_gain_hpo : .
po_P_gain_source : dbVar:nssv15161063; dbVar:nssv15161100; nssv16207408; dbVar:nssv15161429; nssv15161862; dbVar:nssv15163105; dbVar:nssv15163106; dbVar:nssv15163386; dbVar:nssv15161655; dbVar:nssv15143157; dbVar:nssv15161606; dbVar:nssv15161322; dbVar:nssv15161048; dbVar:nssv15161614; nssv15161711; dbVar:nssv17956859; dbVar:nssv16253994; dbVar:nssv15161281; dbVar:nssv17969243; dbVar:nssv17969245
po_P_gain_coord : 20:80107-30227427; 20:80928-26324843; 20:80929-64284202; 20:82604-64281110; 20:82604-64317435; 20:82604-64329941; 20:87197-30403687; 20:89940-30285316; 20:99558-26095205; 20:99558-64277321; 20:9811434-39316956; 20:17725131-33012932; 20:18685236-35315413; 20:19770161-31891274; 20:22061587-30285812; 20:24182140-33233051; 20:25461962-35173747
po_P_gain_percent : 0.08; 0.09; 0.04; 0.04; 0.04; 0.04; 0.08; 0.08; 0.09; 0.04; 0.08; 0.15; 0.14; 0.19; 0.28; 0.25; 0.23
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:25015257-26202005
B_gain_AFmax : 0.01
po_B_gain_allG_source : .
po_B_gain_allG_coord : .
po_B_gain_someG_source : chr20:25684814-25751914 dbVar; chr20:25746755-25759972 dbVar; chr20:25751865-25790491 dbVar
po_B_gain_someG_coord : chr20:25015257-26202005 dbVar; chr20:25731016-25742904 dbVar; chr20:25751865-25785688 dbVar
.ENCODE_blacklist_characteristics_left : .
ENCODE_blacklist_left : .
SegDup_left : .
Repeat_coord_left : .
Repeat_type_left : .
Gap_left : .
GC_content_left : 0.325
.ENCODE_blacklist_characteristics_right : .
ENCODE_blacklist_right : .
SegDup_right : 20:25752457-25756137; 20:25752457-25777418; 20:25752457-25797121; 20:25752457-25799194; 20:25752457-25845152; 20:25752460-25786934; 20:25752460-25786934; 20:25753506-25786367; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25753686-25759798; 20:25756106-25768377
Repeat_coord_right : 20:25756087-25756394
Repeat_type_right : AluY
Gap_right : .
GC_content_right : 0.530
full=1ACMG_class : full=1
DUPSV_type : DUP
SV_length : 22753
splitAnnotation_mode : split
LOC105372582Gene_name : LOC105372582;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
txStart-txEndLocation : txStart-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : NR_135006
Tx_version : 1
Tx_start : 25751207
Tx_end : 25756050
Exon_count : 2
Overlapped_tx_length : 4843
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : .
Nearest_SS_type : .
Intersect_start : 25751207
Intersect_end : 25756050
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:25015257-26202005; chr20:25746755-25759972
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .
full=1ACMG_class : full=1
DUPSV_type : DUP
SV_length : 22753
splitAnnotation_mode : split
LOC107985400Gene_name : LOC107985400;
LOEUF_bin : .
GnomAD_pLI : .
ExAC_pLI : .
HI : .
TS : .
DDD_HI_percent : .
ACMG : .
ExAC_cnvZ : .
ExAC_delZ : .
ExAC_dupZ : .
ExAC_synZ : .
ExAC_misZ : .
GenCC_disease : .
GenCC_moi : .
GenCC_classification : .
GenCC_pmid : .
NCBI_gene_ID : .
intron1-txEndLocation : intron1-txEnd
CytoBand : p11.1
Location2 : UTR
Tx : XR_007067556
Tx_version : 1
Tx_start : 25697040
Tx_end : 25748142
Exon_count : 2
Overlapped_tx_length : 14697
Overlapped_CDS_length : 0
Overlapped_CDS_percent : 0
Frameshift : no
Dist_nearest_SS : 823
Nearest_SS_type : 3'
Intersect_start : 25733445
Intersect_end : 25748142
.OMIM_ID : .
OMIM_phenotype : .
OMIM_inheritance : .
OMIM_morbid : .
OMIM_morbid_candidate : .
NAExomiser_gene_pheno_score : NA
Human_pheno_evidence : NA
Mouse_pheno_evidence : NA
Fish_pheno_evidence : NA
NAPhenoGenius_specificity : NA
PhenoGenius_phenotype : NA
PhenoGenius_score : NA
.RE_gene : .
.P_gain_coord : .
P_gain_source : .
P_gain_phen : .
P_gain_hpo : .
.P_snvindel_nb : .
P_snvindel_phen : .
dbVarB_gain_source : dbVar
B_gain_coord : chr20:25015257-26202005; chr20:25684814-25751914
B_gain_AFmax : 0.01
.ENCODE_blacklist_characteristics_left : .
.ENCODE_blacklist_characteristics_right : .